IthaID: 1501



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Indian HGVS Name: NG_000007.3:g.50509_83170del32662
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-3

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 50509
Size: 47.733 kb
Deletion involves: δ, β, pseudo β

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: India
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

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
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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