IthaID: 1501

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Indian HPFH-3 HGVS Name: NC_000011.10:g.5194459_5244226del
Hb Name: N/A Protein Info: N/A

Also known as:

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: 53390
Size: 49.768 kb
Deletion involves: δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Schroeder WA, Huisman TH, Sukumaran PK, A second type of hereditary persistence of foetal haemoglobin in India., British journal of haematology, 25(1), 131-5, 1973 PubMed
  2. 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
  3. Henthorn PS, Mager DL, Huisman TH, Smithies O, A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster., Proc Natl Acad Sci U S A, 83(14), 5194-8, 1986 PubMed
  4. Patel S, Dehury S, Purohit P, Meher S, Das K, Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India., J Clin Diagn Res, 9(9), OD09-10, 2015 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-14 09:54:30 (Show full history)

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