IthaID: 1499

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Black HGVS Name: NC_000011.10:g.5153222_5238138delinsAAATA
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-1

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 59478
Size: 84.916 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Africa
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Huisman TH, Schroeder WA, Charache S, Bethlenfalvay NC, Bouver N, Shelton JR, Shelton JB, Apell G, Hereditary persistence of fetal hemoglobin. Heterogeneity of fetal hemoglobin in homozygotes and in conjunction with -thalassemia., N. Engl. J. Med. , 285(13), 711-6, 1971 PubMed
  2. Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin., Nature , 285(5763), 335-7, 1980 PubMed
  3. Jagadeeswaran P, Tuan D, Forget BG, Weissman SM, A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin., Nature , 296(5856), 469-70, 1982 PubMed
  4. Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man., Proceedings of the National Academy of Sciences of the United States of America, 80(22), 6937-41, 1983 PubMed
  5. Kutlar A, Gardiner MB, Headlee MG, Reese AL, Cleek MP, Nagle S, Sukumaran PK, Huisman TH, Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain., Biochemical genetics, 22(1), 21-35, 1984 PubMed
  6. Adams JG, Coleman MB, Hayes J, Morrison WT, Steinberg MH, Modulation of fetal hemoglobin synthesis by iron deficiency., N. Engl. J. Med. , 313(22), 1402-5, 1985 PubMed
  7. Bakioglu I, Kutlar A, Huisman TH, Differences between the levels of G gamma chain in the fetal hemoglobin in two types of hereditary persistence of fetal hemoglobin are linked with a variation in the DNA sequence., Biochem. Genet. , 24(1), 149-51, 1986 PubMed
  8. Feingold EA, Forget BG, The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster., Blood, 74(6), 2178-86, 1989 PubMed
  9. Martinez G, Hernandez A, Corral L, Muniz A, Alaez C, Serra A, Alfarano A, Saglio G, Camaschella C, Molecular characterization of hereditary persistence of fetal hemoglobin in a patient from Cuba., Blood , 76(6), 1262-3, 1990 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-07-06 11:58:35 (Show full history)

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