HBA2

Summary

Gene Symbol: HBA2
Description: hemoglobin subunit alpha 2
Alias: HBA-T2, HBH, hemoglobin subunit alpha, alpha globin, alpha-2 globin, hemoglobin alpha chain, hemoglobin, alpha 2, mutant hemoglobin alpha 2 globin chain
Species: human

Top Publications

  1. ncbi [Study on gene mutations of alpha-thalassemia in the South of China]
    Shan Duan
    Department of Medical Genetics, Sun Yat sen Medical College, Sun Yat Sen University, Guangzhou 510089, China
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 11:54-60. 2003
  2. ncbi ATR-16 due to a de novo complex rearrangement of chromosome 16
    Marta S Gallego
    Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatría Professor Dr Juan P Garrahan, Buenos Aires, Argentina
    Hemoglobin 29:141-50. 2005
  3. doi Clinical features and molecular analysis in Thai patients with HbH disease
    Vichai Laosombat
    Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand
    Ann Hematol 88:1185-92. 2009
  4. doi Interactions of hemoglobin Lepore (deltabeta hybrid hemoglobin) with various hemoglobinopathies: A molecular and hematological characteristics and differential diagnosis
    Attawut Chaibunruang
    Khon Kaen University, Thailand
    Blood Cells Mol Dis 44:140-5. 2010
  5. doi A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent alpha-thalassemia deletions and alphaalphaalpha(anti 3.7) alpha-globin gene triplication
    Arjan de Mare
    Medisch Spectrum Twente Hospital Group, Enschede, The Netherlands
    Hemoglobin 34:184-90. 2010
  6. ncbi The crystal structure of human deoxyhaemoglobin at 1.74 A resolution
    G Fermi
    J Mol Biol 175:159-74. 1984
  7. ncbi Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin
    S A Liebhaber
    Nature 290:26-9. 1981
  8. ncbi A third quaternary structure of human hemoglobin A at 1.7-A resolution
    M M Silva
    Department of Biochemistry, University of Iowa, Iowa City 52242
    J Biol Chem 267:17248-56. 1992
  9. ncbi Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation
    G T Yüreğir
    Department of Biochemistry, Cukurova University, Adana, Turkey
    Br J Haematol 80:527-32. 1992
  10. ncbi Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1
    K L McBride
    Department of Pediatrics and Adolescent Medicine, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hemoglobin 25:375-82. 2001

Research Grants

  1. Ubiquitination in erythropoiesis and the pathophysiology of anemia
    Mark D Fleming; Fiscal Year: 2013
  2. Yelena Ginzburg; Fiscal Year: 2015
  3. Abnormal Hemoglobin Synthesis -- Mechanism and Detection
    YUET KAN; Fiscal Year: 2005
  4. Mitchell J Weiss; Fiscal Year: 2016
  5. SIGNALS FOR POLYADENYLATION OF GLOBIN AND OTHER RNAS
    JEFFREY NORDSTROM; Fiscal Year: 1991
  6. Cell Therapies for Cooley's Anemia
    Thomas M Ryan; Fiscal Year: 2013
  7. The Role of Atrx in Development and Chromatin Remodeling
    Jennifer Brennan; Fiscal Year: 2005
  8. Oral Therapeutic for Beta-Thalassemia
    DOUGLAS FALLER; Fiscal Year: 2003
  9. Alpha-globin expression: post transcriptional mechanisms
    STEPHEN AARON LIEBHABER; Fiscal Year: 2013
  10. MUTANT HEMOGLOBINS THAT ALLOW HBS TO SICKLE
    RAYMOND POPP; Fiscal Year: 1993

Detail Information

Publications279 found, 100 shown here

  1. ncbi [Study on gene mutations of alpha-thalassemia in the South of China]
    Shan Duan
    Department of Medical Genetics, Sun Yat sen Medical College, Sun Yat Sen University, Guangzhou 510089, China
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 11:54-60. 2003
    ..To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) ..
  2. ncbi ATR-16 due to a de novo complex rearrangement of chromosome 16
    Marta S Gallego
    Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatría Professor Dr Juan P Garrahan, Buenos Aires, Argentina
    Hemoglobin 29:141-50. 2005
    ..The stellate pattern of the iris, a new finding in our patient, may contribute to a better clinical delineation of both syndromes, ATR-16 and/or duplication of 16qter...
  3. doi Clinical features and molecular analysis in Thai patients with HbH disease
    Vichai Laosombat
    Division of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90110, Thailand
    Ann Hematol 88:1185-92. 2009
    ..values, growth assessment, transfusion therapy, and serum ferritin levels of patients with hemoglobin H (HbH) disease in southern Thailand. HbH disease in 83 of the 147 patients was the deletional type of HbH...
  4. doi Interactions of hemoglobin Lepore (deltabeta hybrid hemoglobin) with various hemoglobinopathies: A molecular and hematological characteristics and differential diagnosis
    Attawut Chaibunruang
    Khon Kaen University, Thailand
    Blood Cells Mol Dis 44:140-5. 2010
    ..To facilitate rapid epidemiological, diagnostic screening and differentiation of the two Hb Lepore defects, a simple assay based on multiplex PCR has been developed...
  5. doi A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent alpha-thalassemia deletions and alphaalphaalpha(anti 3.7) alpha-globin gene triplication
    Arjan de Mare
    Medisch Spectrum Twente Hospital Group, Enschede, The Netherlands
    Hemoglobin 34:184-90. 2010
    ..Our assay thereby represents the first multiplex PCR assay that can detect both the seven most prevalent alpha-globin gene deletions and the alphaalphaalpha(anti 3.7) alpha-globin gene triplication in a single-tube reaction...
  6. ncbi The crystal structure of human deoxyhaemoglobin at 1.74 A resolution
    G Fermi
    J Mol Biol 175:159-74. 1984
    ..The independence of these parameters from restraints imposed on the model was verified by unrestrained refinement of the entire molecule starting from a structure with modified haem geometry...
  7. ncbi Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin
    S A Liebhaber
    Nature 290:26-9. 1981
    ....
  8. ncbi A third quaternary structure of human hemoglobin A at 1.7-A resolution
    M M Silva
    Department of Biochemistry, University of Iowa, Iowa City 52242
    J Biol Chem 267:17248-56. 1992
    ....
  9. ncbi Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation
    G T Yüreğir
    Department of Biochemistry, Cukurova University, Adana, Turkey
    Br J Haematol 80:527-32. 1992
    ....
  10. ncbi Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1
    K L McBride
    Department of Pediatrics and Adolescent Medicine, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hemoglobin 25:375-82. 2001
    ..The mother, of Khmer ancestry, is heterozygous for alpha-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion...
  11. pmc Translational regulation of human papillomavirus type 16 E7 mRNA by the peptide SEQIKA, shared by rabbit alpha(1)-globin and human cytokeratin 7
    Darja Kanduc
    CARSO Cancer Research Center, Valenzano, Regione Puglia, Italy
    J Virol 76:7040-8. 2002
    ..The in vitro data were confirmed by the occurrence of HPV16 E7 mRNA-cytokeratin 7 binding in squamous cervical cancer SiHa cells...
  12. ncbi A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia
    N I Noguera
    Departamento Bioquimica Clinica, Facultad de Ciencias Bioquimicas y Farmaceuticas, Universidad Nacional de Rosario, Argentina
    Hemoglobin 25:311-5. 2001
    ..A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter...
  13. ncbi An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene
    Cornelis L Harteveld
    Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hemoglobin 28:255-9. 2004
    ..The codon 22 (GGC-->GGT) transition described in this report is the first mutation creating a splice donor site in one of the alpha-globin genes...
  14. pmc Neurons express hemoglobin alpha- and beta-chains in rat and human brains
    Franziska Richter
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Comp Neurol 515:538-47. 2009
    ..Thus, hemoglobin chains are expressed in neurons and are regulated by treatments that affect mitochondria, opening up the possibility that they may play a novel role in neuronal function and response to injury...
  15. doi Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening
    Piero C Giordano
    Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hemoglobin 34:354-65. 2010
    ..Screening and characterization of the mutations, phenotype/genotype correlation and the issue of reporting newborn carriers of alpha-thalassemia (alpha-thal) are discussed...
  16. pmc Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features
    Ita M Nainggolan
    Biomedical Sciences Doctoral Programme, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia
    Hemoglobin 37:297-305. 2013
    ..Thus, accurate diagnosis of α-thal disorders is not only important for future management of these patients but also for providing proper genetic counseling to the family...
  17. ncbi Subunit structure of multiple hemoglobins in carp
    N Ohkudo
    Laboratory of Sea Farming, Tokyo University of Fisheries, Japan
    J Comp Physiol B 163:445-51. 1993
    ..Hemoglobin CII was a hybrid between the two types each of alpha- and beta-chain and could be constructed in vitro from two hemoglobin components CI and CIII...
  18. ncbi Carrier screening for thalassemia and hemoglobinopathies in Canada
    Sylvie Langlois
    Vancouver BC
    J Obstet Gynaecol Can 30:950-71. 2008
    ..g., sickle cell anemia and other qualitative hemoglobin disorders)...
  19. doi Co-inheritance of alpha-and beta-thalassemia in Khuzestan Province, Iran
    Fakher Rahim
    Research Center of Physiology, Ahwaz Jondishapur University of Medical Sciences, Ahwaz, Iran
    Hematology 13:59-64. 2008
    ..People who do not produce enough alpha globin protein chains have alpha-thalassemia...
  20. ncbi Anthropogenetical analysis of abnormal human alpha-globin gene cluster arrangement on chromosome 16
    D Turcinov
    Institute for Anthropological Research, 10000 Zagreb, Croatia
    Coll Antropol 24:295-301. 2000
    ..It also showed new possibilities in anthropogenetic research, by combining the analyses of parish registers with those of modern genetic methods, such as restriction endonuclease mapping...
  21. ncbi Alpha and beta thalassemia
    Herbert L Muncie
    Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA
    Am Fam Physician 80:339-44. 2009
    ..Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains...
  22. ncbi Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects
    A Leder
    Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, MA 02115, USA
    Blood 90:1275-82. 1997
    ..These quantitative differences can potentially be exploited to identify genes important for erythropoiesis...
  23. ncbi The studies of hemoglobinopathies and thalassemia in China--the experiences in Shanghai Institute of Medical Genetics
    Y Zeng
    Shanghai Institute of Medical Genetics, Shanghai Children s Hospital, 24 1400 West Beijing Road, 200040, Shanghai, China
    Clin Chim Acta 313:107-11. 2001
    ..Among them, 20 are new variants. The analysis of the alpha-globin gene organization in 111 HbH patients showed 76 cases (68...
  24. ncbi An increase of the cardiothoracic ratio leads to a diagnosis of Bart's hydrops
    Vorapong Phupong
    Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Rama IV Road, Pathumwan, Bangkok 10330, Thailand
    J Med Assoc Thai 89:509-12. 2006
    ..We report a case of increased cardiothoracic ratio that led to a diagnosis of Hb Bart's in a couple who had normal hemoglobin electrophoresis and low MCV...
  25. ncbi Evidence that microdeletions in the alpha globin gene protect against the development of sickle cell glomerulopathy in humans
    A Guasch
    Department of Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Am Soc Nephrol 10:1014-9. 1999
    ....
  26. ncbi Importance of molecular biology in the characterization of beta-thalassemia carriers
    D Dell'Edera
    Unit of Cytogenetic and Molecular Genetics Madonna delle Grazie Hospital, Matera, Italy
    Eur Rev Med Pharmacol Sci 15:79-86. 2011
    ..The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic deficiency that is the reason of the beta-thalassemic trait...
  27. ncbi Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon
    S Safaya
    Department of Medicine State University of New York Health Science Center, Brooklyn 11203
    J Biol Chem 263:4328-32. 1988
    ..A subject with HbH-HbG Philadelphia (alpha 2(68)Asn----Lys) synthesized only alpha G and no alpha A...
  28. ncbi Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature
    Margaret P Adam
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Prenat Diagn 25:1088-96. 2005
    ..Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia...
  29. ncbi [Rapid detection of the common alpha-thalassemia-2 determinants by PCR assay]
    Y Zhao
    Department of Cell Biology and Medical Genetics, The First Military Medical University, Guangzhou, Guangdong 510515 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18:216-8. 2001
    ..The purpose of this study is to develop a reliable PCR protocol specific for the two common alpha-thalassemia-2 determinants with internal control...
  30. doi Cord blood screening for alpha-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: correlation with genotypes and hematologic parameters
    Pimlak Charoenkwan
    Division of Hematology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
    Blood Cells Mol Dis 45:53-7. 2010
    ..IEF was a reliable method for neonatal cord blood screening for alpha-thalassemia and Hb variants...
  31. ncbi Prevalence of -alpha(3.7) and alpha alpha alpha(anti3.7) alleles in sickle cell trait and beta-thalassemia patients in Mexico
    María Paulina Nava
    Division de Genetica, Centro de Investigacion Biomedica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada No 800, Colonia Independencia, CP 44340, Guadalajara, Jalisco, Mexico
    Blood Cells Mol Dis 36:255-8. 2006
    ..7) and alpha alpha alpha(anti3.7) alleles are very common in our selected populations, we believe that there is a need to investigate systematically the alpha-globin gene mutations in all hemoglobinopathies in the Mexican population...
  32. doi Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy
    Elliott Vichinsky
    Children s Hospital and Research Center Oakland, Oakland, Califorina, USA
    Ann N Y Acad Sci 1202:180-7. 2010
    ..It represents a group of conditions with reduced or absent synthesis of one to all four of alpha globin genes. Deletional or nondeletional mutations occur on chromosome 16...
  33. pmc Rapid diagnosis of alpha-thalassemia by melting curve analysis
    Thongperm Munkongdee
    Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya Campus, 25 25 Phuttamonthon 4 Rd, Phuttamonthon, Nakornpathom 73170, Thailand
    J Mol Diagn 12:354-8. 2010
    ..This method eliminates the post-PCR electrophoresis process, which is laborious, and allows high throughput screening suitable for large population screening for prevention and control of thalassemia...
  34. ncbi Humans and old world monkeys have similar patterns of fetal globin expression
    R M Johnson
    Department of Biochemistry and Molecular Biology, Wayne State Medical School, Detroit, Michigan 48201, USA
    J Exp Zool 288:318-26. 2000
    ..Our results indicate that an Old World monkey, such as Rhesus, could serve as a model organism (resembling humans) for experimentally investigating globin gene expression patterns during the embryonic, fetal, and postnatal stages...
  35. ncbi A second generation transgenic mouse model expressing both hemoglobin S (HbS) and HbS-Antilles results in increased phenotypic severity
    M E Fabry
    Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Blood 86:2419-28. 1995
    ..Human alpha was 58% of all alpha globin for all animals, whereas beta S and beta S-Antilles were 34% and 28% of all beta globins for beta MD mice and ..
  36. ncbi Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene
    P Moi
    Ospedale Regionale per le Microcitemie, USL 21, Cagliari, Italy
    Blood 79:512-6. 1992
    ..To define the reasons for normal HbA2 levels in otherwise typical beta-thalassemia heterozygotes, we cloned and sequenced the delta-thalassemia gene in ..
  37. ncbi Refinement of the genetic cause of ATR-16
    Cornelis L Harteveld
    Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center LUMC, 2333RC Leiden, The Netherlands
    Hum Genet 122:283-92. 2007
    ..The region on chromosome 16p for which haploinsufficiency leads to the dysmorphic features and MR typical for ATR-16, has been narrowed down to a 800 kb region localized between 0.9 and 1.7 Mb from the telomere...
  38. ncbi Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome
    David P Steensma
    Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington Oxford OX3 9DU, United Kingdom
    Blood 103:1518-20. 2004
    ..syndrome [ATMDS]) characterized by hypochromic, microcytic, anisopoikilocytic red blood cells with hemoglobin H (HbH) inclusions...
  39. doi Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia
    Nadia Sardón Estévez
    Medial Medisch Diagnostische Laboratoria, Haarlem, The Netherlands
    Eur J Haematol 82:393-7. 2009
    ..alpha-Thalassemia often correlates with normal or low HbA2 values...
  40. ncbi Development of a comprehensive red blood cell enzymopathy laboratory in Thailand: the study of normal activity in eight erythroenzymes in Thais
    Kalaya Tachavanich
    Hematology Oncology Division, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    Southeast Asian J Trop Med Public Health 40:317-26. 2009
    ..Thai people (55 males and 58 females) age 1-42 years, who all had a normal pattern of hemoglobin typing (HbA and HbA2 less than 3.5%)...
  41. ncbi Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor
    Murugesan Ram Prabahar
    Department of Nephrology, Sri Ramachandra Medical College, Sri Ramachandra University, Chennai, Tamilnadu, India
    Saudi J Kidney Dis Transpl 19:964-8. 2008
    ..Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains...
  42. ncbi The degree of phenotypic correction of murine beta -thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number
    Derek A Persons
    Division of Experimental Hematology, Department of Hematology and Oncology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Blood 101:2175-83. 2003
    ..These data establish the potential of using a gamma-globin lentiviral vector for gene therapy of beta-thalassemia...
  43. ncbi [Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR]
    Yuqiu Zhou
    Zhuhai Institute of Medical Genetics, Zhuhai Municipal Maternal and Child Healthcare Hospital, ZhuhaiìGuangdong, 519001 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:180-4. 2005
    ..7) and -alpha (4.2)) in Chinese population...
  44. doi Prevalence and molecular characterization of alpha-thalassemia syndromes among Indians
    Anita Nadkarni
    Institute of Immunohaematology ICMR, K E M Hospital Campus, Parel, Mumbai, India
    Genet Test 12:177-80. 2008
    ..This study was undertaken to determine the prevalence and molecular basis of alpha-thalassemia in the Indian population and its implications in genetic counseling and prenatal diagnosis...
  45. doi HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects
    Giuseppina Lacerra
    Istituto di Genetica e Biofisica Adriano Buzzati Traverso, CNR, Via Pietro Castellino 111, 80131, Naples, Italy
    Ann Hematol 89:127-34. 2010
    ..the delta-globin gene is relevant to the prevention of beta-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and the double heterozygosis for ..
  46. ncbi Activin A induces erythroid gene expressions and inhibits mitogenic cytokine-mediated K562 colony formation by activating p38 MAPK
    Huei Mei Huang
    Graduate Institute of Cell and Molecular Biology, Taipei Medical University, Taipei, Taiwan
    J Cell Biochem 98:789-97. 2006
    ..We conclude that activin A can regulate the same pathway via p38 MAPK to coordinate cell proliferation and differentiation of K562 cells...
  47. ncbi Secondary and tertiary structure aberration of alpha globin chain in haemoglobin Q-India disorder
    Viroj Wiwanitkit
    Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand 10330
    Indian J Pathol Microbiol 49:491-4. 2006
    ..In this study, amino acid sequence of human alpha globin was searched using ExPASY and used for further mutation to Hb Q-India disorder...
  48. pmc High expression of human beta S- and alpha-globins in transgenic mice: erythrocyte abnormalities, organ damage, and the effect of hypoxia
    M E Fabry
    Department of Medicine, Albert Einstein College of Medicine Montefiore Medical Center, Bronx, NY 10461
    Proc Natl Acad Sci U S A 89:12155-9. 1992
    ..We conclude that the transgenic mouse line reported here has chronic organ damage and further hematological and organ dysfunction can be induced by hypoxia...
  49. ncbi In situ hybridization reveals co-expression of embryonic and adult alpha globin genes in the earliest murine erythrocyte progenitors
    A Leder
    Department of Genetics, Harvard Medical School, Boston, MA
    Development 116:1041-9. 1992
    ..At no time could we detect expression of embryonic zeta globin mRNA without concomitant expression of adult alpha globin mRNA. Indeed, adult alpha transcripts exceed those of embryonic zeta in the earliest red cell precursors...
  50. doi A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))
    Marion Phylipsen
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Blood Cells Mol Dis 45:133-5. 2010
    ..Because of a 25% risk of Hb Bart's with hydrops foetalis in the offspring when in combination with another alpha(0)-thalassemia allele, it is important to diagnose this deletion...
  51. doi Biophysical characterization of beta-thalassemic red blood cells
    Omar S Desouky
    Radiation Physics Department, Biophysics Lab, National Center for Radiation Research and Technology, P O Box 29, Madinat Nasr, Cairo, Egypt
    Cell Biochem Biophys 55:45-53. 2009
    ..This offers the advantages of being effective, low cost, and fast techniques, therefore, we suggest that these techniques could be applied for beta-thalassemia major screening purposes...
  52. pmc Sequence divergence in the 3' untranslated regions of human zeta- and alpha-globin mRNAs mediates a difference in their stabilities and contributes to efficient alpha-to-zeta gene development switching
    J E Russell
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
    Mol Cell Biol 18:2173-83. 1998
    ..Based upon these data, we propose a model for zeta-globin gene silencing in fetal and adult erythroid cells in which posttranscriptional controls play a central role by providing for accelerated clearance of zeta-globin transcripts...
  53. ncbi Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia
    Ilham Saleh Abuljadayel
    TriStem U K Limited
    ScientificWorldJournal 6:1278-97. 2006
    ....
  54. ncbi Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
    C N Suemasu
    Departamento de Patologia Clinica, Universidade Estadual de Campinas, SP, Brasil
    Braz J Med Biol Res 44:16-22. 2011
    ....
  55. pmc In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction
    E C Strauss
    Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts
    Mol Cell Biol 12:2135-42. 1992
    ..The juxtaposition and interaction of these factors with each other, and with accessory proteins not directly in contact with DNA, are likely to account for the relative position independence of the upstream globin regulatory elements...
  56. ncbi [Preparation of high-affinity monclonal antibody against hemoglobin delta globin chain and beta globin chain]
    Ping Zhu
    Department of Immunology, School of Basic Medical Science, Southern Medical University, Guangzhou 510515, China
    Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 26:556-9. 2010
    To prepare monclonal antibody (mAb) against both hemoglobin A2 (HbA2) and hemglobin A (HbA), this antiboy can bind to delta globin chain and beta globin chain, but not to gamma globin chain.
  57. ncbi Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
    Helene Puehringer
    ViennaLab Diagnostics GmbH, Vienna, Austria
    Clin Chem Lab Med 45:605-10. 2007
    ..The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations...
  58. doi Generation and characterization of human delta-globin-specific monoclonal antibodies
    Haiyan Xiao
    Department of Immunology, Southern Medical University, Guangzhou, China
    Blood Cells Mol Dis 44:127-32. 2010
    The human delta-globin chain, unique to the hemoglobin A2 (HbA2) heterotetramer, is important for the evaluation of hemoglobinopathy...
  59. ncbi alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online
    S Ayala
    Hematology Laboratory Department, Hospital Clinic i Provincial, Faculty of Medicine, University of Barcelona, Spain
    Hum Mutat 11:412. 1998
    ..This mutation was confirmed by PCR using an allele specific primer...
  60. ncbi Prevalence study and molecular characterization of alpha-thalassemia in Filipinos
    T M Ko
    Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan
    Ann Hematol 78:355-7. 1999
    ..Elucidation of the alpha-thal mutations in Filipinos is useful in the genetic counseling and prenatal diagnosis of this common disease...
  61. ncbi Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism
    S B Jorge
    Departamento de Patologia Clinica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brasil
    Braz J Med Biol Res 36:1471-4. 2003
    ..It can be especially useful for laboratories which do not have an automated sequencer...
  62. ncbi Prevalence of alpha-globin gene deletions among patients with unexplained microcytosis in a North-American population
    Julie Bergeron
    Department of Haematology and Blood Bank, Centre Hospitalier de l Universite de Montreal, Montreal, Quebec, Canada
    Hemoglobin 29:51-60. 2005
    ..The pertinence of genetic counseling for alpha-thal based on molecular diagnosis should be evaluated more formally in urban centers where this genetic condition is likely to have an increasing prevalence and clinical relevance...
  63. ncbi Hb Bart's in cord blood: an accurate indicator of alpha-thalassemia
    Michelle J Rugless
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hemoglobin 30:57-62. 2006
    ..This strategy could be utilized to screen populations for the incidence of alpha-thal and also to identify rare or new molecular lesions that reduce alpha-globin gene expression...
  64. ncbi Molecular characterization and PCR diagnosis of Thailand deletion of alpha-globin gene cluster
    T M Ko
    Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei
    Am J Hematol 57:124-30. 1998
    ..Based on our data, we used three oligonucleotide primers to amplify the regions across the deletion and its corresponding normal sequence. The feasibility of PCR diagnosis was confirmed in 20 carriers with this deletion...
  65. doi Novel technique for rapid detection of alpha-globin gene mutations and deletions
    Jingzhong Liu
    Basic Medical Research Center, Beijing Chaoyang Hospital, Affiliate of The Capital Medical University, Beijing, China 100020
    Transl Res 155:148-55. 2010
    ....
  66. ncbi delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]
    O Drakoulakou
    Laikon General Hospital, Center for Thalassemias, Athens, Greece
    Hum Mutat 9:344-7. 1997
    delta-Thalassemia reduces the expected HbA2 percentage, altering the normal as well as the beta-thalassemia trait phenotype...
  67. ncbi Effect of zeta-globin substitution on the O2-transport properties of Hb S in vitro and in vivo
    Zhenning He
    Department of Medicine Hematology Oncology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Biochem Biophys Res Commun 325:1376-82. 2004
    ..The potential structural bases for the antisickling properties of Hb zeta(2)beta(2)(S) are discussed in the context of these new observations...
  68. doi Hot topic: Gene duplication at the α-lactalbumin locus: finding the evidence in water buffalo (Bubalus bubalus L.)
    R Rullo
    CNR ISPAAM, Via Argine, 1085 80147 Ponticelli Napoli, Italy
    J Dairy Sci 93:2161-7. 2010
    ..These results confirm the hypothesis that a tandemly repeated copy of the LALBA gene is present in water buffalo...
  69. doi Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment
    Andreia Coelho
    Departamento de Genetica, Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
    Blood Cells Mol Dis 45:147-53. 2010
    ..in the telomeric region of the short arm of chromosome 16, in an attempt to explain the alpha-thalassemia or the HbH disease present in a group of Portuguese patients...
  70. ncbi Mechanisms of vascular instability in a transgenic mouse model of sickle cell disease
    K A Nath
    Nephrology, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA
    Am J Physiol Regul Integr Comp Physiol 279:R1949-55. 2000
    ..Destabilization of the vasoactive balance in the sickle vasculature by clinically relevant states may predispose to vasoocclusive disease...
  71. pmc Coexpression of human alpha- and circularly permuted beta-globins yields a hemoglobin with normal R state but modified T state properties
    Anna L Asmundson
    Department of Chemistry, Western Washington University, Bellingham, Washington 98225 9150, USA
    Biochemistry 48:5456-65. 2009
    ..5 mmHg and a low n-value (approximately 1.3) at pH 7, 20 degrees C, compared to 8.5 mmHg and n approximately 2.8 for native HbA under identical, dilute conditions...
  72. ncbi 3' non-coding region sequences in eukaryotic messenger RNA
    N J Proudfoot
    Nature 263:211-4. 1976
    ..In addition, a large selection of the 3' non-coding regions of rabbit and human globulin mRNAs (both the alpha and beta globin mRNAs) are 85% homologous, demonstrating that this region is significantly conserved in evolution...
  73. pmc Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chains
    M Seid-Akhavan
    Proc Natl Acad Sci U S A 73:882-6. 1976
    ....
  74. pmc Inositol monophosphatase is a highly conserved enzyme having localized structural similarity to both glycerol 3-phosphate dehydrogenase and haemoglobin
    K A Wreggett
    Department of Biochemistry, AFRC Institute of Animal Physiology and Genetics Research, Babraham, Cambridge, U K
    Biochem J 286:147-52. 1992
    ..These regions of the inositol monophosphatase may represent motifs for the binding of its substrate...
  75. ncbi A human recombinant haemoglobin designed for use as a blood substitute
    D Looker
    Somatogen Inc, Boulder, Colorado 80301
    Nature 356:258-60. 1992
    ..Fusion of the two alpha-globin subunits increases the half-life of this haemoglobin molecule in vivo by preventing its dissociation into alpha beta dimers and therefore also eliminates renal toxicity...
  76. ncbi Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia
    P Moi
    Ospedale Regionale per le Microcitemie, Cagliari, Italy
    Blood 72:530-3. 1988
    ..the coinheritance of the delta +27 mutation in a group of Sardinians with thalassemia like phenotype and normal HbA2 level who, on the basis of genetic criteria, were supposed to be double heterozygous for delta-thalassemia and beta-..
  77. ncbi Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family
    R E Reed
    Br J Haematol 26:475-84. 1974
  78. ncbi A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene
    V Oron-Karni
    Department of Hematology, Hebrew University Hadassah Medical School, Hadassah University Hospital, Jerusalem, Israel
    Hum Mol Genet 6:881-5. 1997
    ..Our model explains all six mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon...
  79. ncbi Fetal hemoglobin expression in the compound heterozygous state for -117 (G-->A) Agamma HPFH and IVSII-745 (C-->G) beta+ thalassemia: a case study
    G V Dedoussis
    Laiko General Hospital, Center for Thalassemia, Athens, Greece
    Am J Hematol 61:139-43. 1999
    ..3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation...
  80. ncbi Reduction of the clinical severity of sickle cell/beta-thalassemia with hydroxyurea: the experience of a single center in Greece
    D Loukopoulos
    First Department of Medicine, University of Athens, 115 27 Athens, Greece
    Blood Cells Mol Dis 26:453-66. 2000
    ....
  81. ncbi The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis
    I El-Agouza
    Zoology Department, Faculty of Science, Cairo University, Egypt
    Clin Lab Haematol 24:285-9. 2002
    The purpose of the present study was to quantify the effect of iron deficiency anaemia on the levels of HbA2, HbF, and HbA1C. Complete blood counts (CBC) were performed on 730 university students...
  82. ncbi The control of expression of the alpha-globin gene cluster
    Hua Bing Zhang
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P R China
    Int J Hematol 76:420-6. 2002
    ..In summary, the alpha-globin gene cluster is expressed in an open chromosomal environment; HS-40, the 5'-flanking sequence, the transcribed region, and the 3'-flanking sequence interact to fully regulate its expression...
  83. ncbi Effects of heme addition on formation of stable human globin chains and hemoglobin subunit assembly in a cell-free system
    Kazuhiko Adachi
    The Children s Hospital of Philadelphia, Division of Hematology and University of Pennsylvania School of Medicine, 19104, USA
    Arch Biochem Biophys 413:99-106. 2003
    ....
  84. ncbi Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
    Cristina Tufarelli
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Nat Genet 34:157-65. 2003
    ..in a truncated, widely expressed gene (LUC7L) becoming juxtaposed to a structurally normal alpha-globin gene (HBA2)...
  85. pmc The relationship between the presence of extra alpha-globin genes and blood cell traits in Altamurana sheep
    Elisa Pieragostini
    Department of Engineering and Management of the Agricultural, Livestock and Forest Systems, University of Bari, Via Amendola 165 A, 70100 Bari, Italy
    Genet Sel Evol 35:S121-33. 2003
    ..This hematological picture is consistent with the existence of an unbalanced alpha/beta ratio...
  86. ncbi The C-->G transition in the alpha 2-globin gene of a normal alpha alpha-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians
    B Masala
    Center for Biotechnology Development and Biodiversity Research, University of Sassari, Sassari, Italy
    Eur J Haematol 72:437-40. 2004
    ....
  87. ncbi Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry
    Marlies E Regtuijt
    Department of Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands
    Hemoglobin 28:173-6. 2004
    ..In contrast with earlier reports we were unable to identify any native Hb fraction. The balanced beta/alpha ratio indicated that alpha2-Suan-Dok is formed but does not form tetramer formation unless alpha-thal is present...
  88. ncbi Axolotl hemoglobin: cDNA-derived amino acid sequences of two alpha globins and a beta globin from an adult Ambystoma mexicanum
    Fumio Shishikura
    Department of Biology, Nihon University School of Medicine, Itabashi ku, Tokyo 173 8610, Japan
    Comp Biochem Physiol B Biochem Mol Biol 142:258-68. 2005
    ..that alphaM, alpham, beta and the previously known alpha major globin were adult types of globins and the other known alpha globin was a larval type. The existence of two to four more globins in the axolotl erythrocyte is predicted.
  89. ncbi Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias
    Fabrizia Urbinati
    Hematology Oncology, Childrens Hospital Los Angeles, Mail Stop 54, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
    Expert Rev Mol Med 8:1-26. 2006
    ..An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease...
  90. ncbi A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene
    Jeroen Poodt
    Multidisciplinary Laboratory for Molecular Diagnostics, Jeroen Bosch Hospital, s Hertogenbosch, The Netherlands
    Hemoglobin 30:471-7. 2006
    ..The MCV values of four related carriers of the alpha-alphaDelta970 allele were slightly lowered, consistent with the presence of three functional alpha-globin genes...
  91. pmc Transcriptional interference among the murine beta-like globin genes
    Xiao Hu
    Department of Microbiology Immunology and Norris Cotton Cancer Center, Dartmouth Medical School, Hanover, NH 03756, USA
    Blood 109:2210-6. 2007
    ..Protein analysis showed that betah0 encodes a translatable beta-like globin protein that can pair with alpha globin. The lack of transcriptional interference between Ey and betah1 and the gene-specific repression of betah0 did ..
  92. ncbi The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant
    Piero C Giordano
    The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hemoglobin 31:179-82. 2007
    ..Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population...
  93. pmc Fetal gene therapy of alpha-thalassemia in a mouse model
    Xiao Dong Han
    Cardiovascular Research Institute, Institute of Human Genetics and Department of Medicine, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 104:9007-11. 2007
    ....
  94. ncbi Vitrification of in vitro matured ovine oocytes affects in vitro pre-implantation development and mRNA abundance
    Sara Succu
    Department of Animal Biology, University of Sassari, Sassari, Italy
    Mol Reprod Dev 75:538-46. 2008
    ..083 and P = 0.068, respectively). The oocyte lower transcripts abundance following vitrification might be an early indicator of poor quality in good correlation with the developmental data to blastocyst stage...
  95. doi Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography
    Isabelle Zanella-Cleon
    Institut de Biologie et de Biochimie des Protéines, IFR128, Universite Claude Bernard Lyon I, Lyon, France
    Clin Chem 54:1053-9. 2008
    ..The alpha-thalassemic behavior of this variant has been explained as an impaired interaction between the alpha-globin chain and the alpha-Hb-stabilizing protein...
  96. doi Molecular basis of alpha-thalassemia in Algeria
    Hamida Mesbah-Amroun
    Université des Sciences et de la Technologie Houari Boumediene, Faculte des Sciences Biologiques, Laboratoire de Biologie Cellulaire et Moleculaire, Algiers, Algeria
    Hemoglobin 32:273-8. 2008
    ..Overall, the -alpha(3.7) deletion was the most prevalent allele (2.9%), followed by the alpha(Nco I)alpha (HBA2:c.1A>G) allele (0.6%) and by the alpha(Hph I)alpha (HBA2:c.95 + 2_95 + 6delTGAGG), -alpha(20...
  97. pmc Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals
    Vidushi S Patel
    The ARC Centre for Kangaroo Genomics, Research School of Biological Sciences, The Australian National University, Canberra, ACT 2601, Australia
    BMC Biol 6:34. 2008
    ..Here we analyse genomic data from an egg-laying monotreme mammal, the platypus (Ornithorhynchus anatinus), to explore haemoglobin evolution at the stem of the mammalian radiation...
  98. doi Initial function analysis of a novel erythroid differentiation related gene EDRF1
    D Wang
    Beijing Institute of Basic Medical Sciences, Academy of Military Medical Sciences, China
    Sci China C Life Sci 44:489-96. 2001
    ..These data provided the evidence that EDRF1 can influence globin expression and hemoglobin synthesis in K562 cells and modulated self-renewal in K562 cells...
  99. doi Early replication timing of the chicken alpha-globin gene domain correlates with its open chromatin state in cells of different lineages
    Denis B Klochkov
    Institute of Gene Biology, Russian Academy of Sciences, Vavilov Street 34 5, 119334 Moscow, Russia
    Genomics 93:481-6. 2009
    ....
  100. doi Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS -40)
    Douglas Vernimmen
    Medical Research Council MRC Molecular Haematology Unit, Weatherall Institute for Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS United Kingdom
    Blood 114:4253-60. 2009
    ..These results were confirmed in a mouse model of human alpha globin expression in which the human cluster replaces the mouse cluster in situ (humanized mouse)...
  101. doi The expanding spectrum of thalassemia intermedia
    Inusha Panigrahi
    Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh 12, India
    Hematology 14:311-4. 2009
    ..Two common underlying mechanisms include co-inheritance of alpha globin gene deletions in homozygous thalassemia intermedia and presence of XmnI polymorphism...

Research Grants57

  1. Ubiquitination in erythropoiesis and the pathophysiology of anemia
    Mark D Fleming; Fiscal Year: 2013
    ....
  2. Yelena Ginzburg; Fiscal Year: 2015
    ..Ultimately, our goal is to provide an alternative treatment for these patients that could possibly be effective for other diseases associated with anemia and iron overload. ..
  3. Abnormal Hemoglobin Synthesis -- Mechanism and Detection
    YUET KAN; Fiscal Year: 2005
    ..alpha-globin gene and the rescue the disease phenotype. Such an approach could be useful not only for alpha-thalassemia but also for other genetic disorders such as OTC deficiency where the disease begins in utero. ..
  4. Mitchell J Weiss; Fiscal Year: 2016
    ..We discovered alpha hemoglobin stabilizing protein (AHSP), an erythroid protein that specifically binds free alpha globin subunit, stabilizes its structure and limits its pro-oxidant activities...
  5. SIGNALS FOR POLYADENYLATION OF GLOBIN AND OTHER RNAS
    JEFFREY NORDSTROM; Fiscal Year: 1991
    ..The relationship between poly(A) signals and introns will be explored in detail. These studies will give insight into the regulation of differential RNA processing...
  6. Cell Therapies for Cooley's Anemia
    Thomas M Ryan; Fiscal Year: 2013
    ..for postnatal studies by increasing the newborn levels of fetal hemoglobin (HbF) and/or the minor adult hemoglobin (HbA2)...
  7. The Role of Atrx in Development and Chromatin Remodeling
    Jennifer Brennan; Fiscal Year: 2005
    ..Despite the large number of potential targets for Atrx, the alpha globin gene is the only known target, and even for this locus, the etiology of the defect is not understood...
  8. Oral Therapeutic for Beta-Thalassemia
    DOUGLAS FALLER; Fiscal Year: 2003
    ..S. The beta thalassemia syndromes are characterized by excess alpha globin chains, which are toxic to the developing red blood cell and cause rapid apoptosis, resulting in severe anemia ..
  9. Alpha-globin expression: post transcriptional mechanisms
    STEPHEN AARON LIEBHABER; Fiscal Year: 2013
    ..abstract_text> ..
  10. MUTANT HEMOGLOBINS THAT ALLOW HBS TO SICKLE
    RAYMOND POPP; Fiscal Year: 1993
    ..The mouse model for sickle cell anemia would facilitate research on the pathophysiology of the disease and on the development and testing of anti-sickling drugs. ..
  11. HEMOGLOBINOPATHY GENE THERAPY--USE OF RETROVIRAL VECTORS
    Inder Verma; Fiscal Year: 1990
    ..6) Germ line transfer: We plan to infect preimplantation embryos with retroviral vectors in order to study the expression of globin genes carried in the germ line of normal and thalassemic mice...
  12. NF-E2 BINDING SITES AND GLOBIN GENE REGULATION
    PAUL NEY; Fiscal Year: 2002
    ..To identify molecules that interact with these motifs, we propose yeast one/two-hybrid screens. Results from these experiments should yield important insights into the regulation of globin gene expression. ..
  13. A-GLOBIN PROMOTOR BINDING FACTORS: STRUCTURE & CLONING
    MICHAEL SHEFFERY; Fiscal Year: 1991
    ....
  14. HEMATOLOGICAL DIAGNOSIS OF SICKLE CELL ANEMIA
    GERALD KROPP; Fiscal Year: 1993
    ..PCR-based methods for detecting these sequences will provide the basis for developing a diagnostic kit that will predict whether SCD will be mild or severe, and will guide decisions regarding termination of pregnancy and undertaking BMT...
  15. Bronx Comprehensive Sickle Cell Center
    MARY FABRY; Fiscal Year: 2007
    ..This proposal is complemented by two above-the-cap Clinical Project Proposals, both based on last cycle accomplishments. ..
  16. CHEMICAL & RECOMBINANT STUDIES ON SICKLE CELL HEMOGLOBIN
    James Manning; Fiscal Year: 2002
    ..The important regions of HbF, of current clinical interest and of HbA2, in inhibition of HbS polymerization and their relative strengths will be evaluated...
  17. A comprehensive analysis of aCP2 containing mRNPs
    SHELLY WAGGONER; Fiscal Year: 2009
    ....
  18. MOLECULAR MECHANISMS OF VLDL ASSEMBLY
    Roger Davis; Fiscal Year: 1993
    ..The combined physiologic, cell and molecular biologic approaches should provide new insights into the mechanisms through which VLDL assembly is regulated...
  19. STEPHEN AARON LIEBHABER; Fiscal Year: 2016
    ....
  20. mRNA Targets of the alpha CP RNA-binding Proteins
    SHELLY WAGGONER; Fiscal Year: 2004
    ..abstract_text> ..
  21. THE EFFECTS OF MESSENGER RNA STRUCTURE ON TRANSLATION
    ALLAN MORRIS; Fiscal Year: 1980
    Anaysis of the nascent polypeptides produced by the separated alpha globin mRNA and Beta globin mRNA from the rabbit during synthesis in cell-free systems will be conducted...
  22. HEMOGLOBIN SYNTHESIS IN THE HUMAN ERYTHROCYTE
    Maher Albitar; Fiscal Year: 1993
    ..of the research component of this proposal are to define the interactions of the functional genes in the human alpha globin gene cluster...
  23. HBF VARIANTS FOR GENE THERAPY OF SICKLE CELL DISEASE
    Kazuhiko Adachi; Fiscal Year: 2005
    ..assembly with a chains to form functional human fetal Hb, (2) Ubiquitin-mediated degradation of excess non-alpha globin chains in vivo, and (3) Engineered Hb F variants having low oxygen affinity and inhibitory properties on Rb S ..
  24. Erythropoiesis & pulse arginine butyrate in sickle cell
    Susan Perrine; Fiscal Year: 2005
    ..Abstract Not Provided ..
  25. Oral Therapeutic for Beta-Thalassemia
    Susan Perrine; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  26. Pharmacophore-Modeled Screening for HbF-Inducing Agents
    Susan Perrine; Fiscal Year: 2004
    ..virtual screening using molecular modeling with confirmation by reporter assay and selection of a specific HDAC activity should generate additional compounds for development of an optimal HbF inducer for an effective life-long treatment ..
  27. FETAL GLOBIN INDUCTION IN BETA THALASSEMIA
    Susan Perrine; Fiscal Year: 2002
    ..by a deficiency of adult (beta) globin chains of adult hemoglobin (Hb), an excess of toxic, unmatched alpha globin chains, and intramedullary hemolysis...
  28. HUMAN GLOBIN GENE TRANSFER AND EXPRESSION
    Arthur Bank; Fiscal Year: 2002
    ....
  29. Modulators of Nitric Oxide Synthase Activity in Sickle Cell Disease
    Mary E Fabry; Fiscal Year: 2010
    ..These observations may be applicable to patient interventions. ..
  30. Gene Delivery into Human Hematopoietic Cells
    Arthur Bank; Fiscal Year: 2008
    ..The gene delivery technology should also be applicable for use in treating other human diseases as well. ..
  31. PHASE I/II STUDY OF SIMVASTATIN (ZOCOR) THERAPY IN SICKLE CELL DISEASE
    Carolyn Hoppe; Fiscal Year: 2008
    ..unreadable] [unreadable] 2. To assess the safety and tolerability of oral simvastatin in patients with SCD. [unreadable] [unreadable] [unreadable]..
  32. REGULATION OF HUMAN GLOBIN GENE EXPRESSION
    Arthur Bank; Fiscal Year: 2004
    ..that express the complex; and (6) define other SWI/SNF complexes, particularly a putative one at the human alpha globin locus. These studies should provide new insights into the mechanisms controlling the hemoglobin switching...
  33. CHEMOPROT OF HEMATOPOIETIC CELLS BY MDR GENE TRANSFER
    Arthur Bank; Fiscal Year: 2001
    ..These studies could lead to conditions for permitting higher doses of chemotherapy to be administered to advanced cancer patients with less hematologic toxicity, longer remissions or potential cure of these patients. ..
  34. Mechanism of Gamma-Globin Gene Activation in the Adult
    Qiliang Li; Fiscal Year: 2004
    ..Such a development will have important consequences for the treatment of patients with sickle cell disease or beta thalassemia syndromes. ..
  35. FUNCTION AND CONSERVATION IN GLOBIN LOCUS CONTROL REGION
    Ross Hardison; Fiscal Year: 2001
    ..5 and isolate the binding proteins. ..
  36. REGULATION OF PROTEIN SYNTHESIS AND ERYTHROPOIESIS
    Jane Jane Chen; Fiscal Year: 2007
    ..HRI is also important for the survival of mice with thalassemia and erythropoietic protoporphria. Our proposed study may lead to potential application of HRI in treating human patients with red cell diseases. ..
  37. REGULATION OF PROTEIN SYNTHESIS AND ERYTHROPOIESIS
    Jane Jane Chen; Fiscal Year: 2008
    ..The small chemicals discovered in this proposed research might also have great potential in helping to treat drug-resistant cancer cells. ..
  38. Genome-Wide Association Studies in Sickle Cell Anemia and in Centenarians
    Martin H Steinberg; Fiscal Year: 2010
    ..Using novel advanced network modeling techniques we plan to delineate genes and pathways that play crucial roles in diseases like stroke and hypertension. (End of Abstract) ..
  39. Etiology, Stem Cell Biology and Therapy of Anemia in the Elderly
    Stanley L Schrier; Fiscal Year: 2010
    ....
  40. Modulation of Iron Deposition in SCD and Other Hemoglobinopathies
    ELLIOTT P contact VICHINSKY; Fiscal Year: 2010
    ....
  41. Genetic Modulation of Sickle Cell Disease
    Martin H Steinberg; Fiscal Year: 2010
    ....
  42. STRUCTURE/FUNCTION OF HEME REGULATED ELF-2ALPHA KINASE
    Jane Jane Chen; Fiscal Year: 2001
    ..Structure-function analysis of HRI will advance our knowledge not only on the regulation of protein kinases which are vital in the regulation of various cellular processes, but also on the regulation of heme proteins. ..
  43. MOLECULAR BASIS OF MYELOPOIESIS
    BERNARD FORGET; Fiscal Year: 2008
    ..abstract_text> ..
  44. Role of Placenta Growth factor in Sickle ACS
    MALIK PUNAM; Fiscal Year: 2008
    ..VEGFR-antagonists are in clinical trials and leukotriene blockers are FDA approved and in clinical use for asthma and could be candidates for an ACS prevention trial. ..
  45. OVERCOMING POSITION EFFECTS WITH CHROMATIN INSULATORS
    David Emery; Fiscal Year: 2008
    ..abstract_text> ..
  46. PATHOGENESIS OF SICKLE CELL GLOMERULOPATHY
    Antonio Guasch; Fiscal Year: 2001
    ..They hope that this information will help design trials that target patients at higher risk and find new treatments for this disease. ..
  47. MOLECULAR GENETICS OF THE RED CELL MEMBRANE SKELETON
    BERNARD FORGET; Fiscal Year: 2006
    ..abstract_text> ..
  48. E/BETA THALASSEMIA--NATURAL HISTORY & RESPONSE TO CHEMO
    Elliott Vichinsky; Fiscal Year: 2002
    ..In summary, if this study is successful, it will change the approach to Hb E/B worldwide and result in improved quality of life and decreased mortality. (End of Abstract) ..
  49. Determinants of HbF Response to Hydroxyurea
    Martin Steinberg; Fiscal Year: 2005
    ..5 cM resolution. We hope ultimately to discover SNPs, haplotypes or genes that predict or modulate the HbF response to hydroxyurea and better define HbF regulation in sickle cell anemia. ..
  50. Eighth Cooley's Anemia Symposium
    Elliott Vichinsky; Fiscal Year: 2005
    ....
  51. Dynamic Regulation of y-Globin mRNA Stability
    J Russell; Fiscal Year: 2004
    ....
  52. Early Glomerular Changes in Diabetic African-Americans
    Antonio Guasch; Fiscal Year: 2004
    ..This may lead to therapies that could be started very early on in diabetic patients targeted at preventing the development of kidney complications. ..
  53. CD40-CD154 Interactions in Cryptosporidial Immunity
    ESTHER PONNURAJ; Fiscal Year: 2004
    ..The results will be important for immunodeficient humans chronically infected with the parasite. ..
  54. A QTL for fetal hemoglobin and F cells on chromosome 8q
    Swee Thein; Fiscal Year: 2003
    ..The discovery of these factors may also suggest new approaches for therapeutic augmentation of fetal hemoglobin production in patients with SCD and beta thalassemia. ..