IthaID: 1498



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.48194_70985del
Hb Name: Hb Kenya Protein Info: Aγ-β hybrid (Aγ through 80; β from 87)

Also known as: HPFH-7 , Kenya

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48194
Size: 22.675 kb
Fusion involves: , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δβ-thalassaemia, δ-chain variant
Allele Phenotype:HPFH
γβ fusion
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Fusion
Ethnic Origin: Kenyan, Ugandan, African-American
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG, Hemoglobin Kenya, the product of fusion of amd polypeptide chains., Archives of biochemistry and biophysics, 153(2), 850-3, 1972 PubMed
  2. Kendall AG, Ojwang PJ, Schroeder WA, Huisman TH, Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family., Am. J. Hum. Genet. , 25(5), 548-63, 1973 PubMed
  3. Nute PE, Wood WG, Stamatoyannopoulos G, Olweny C, Failkow PJ, The Kenya form of hereditary persistence of fetal haemoglobin: structural studies and evidence for homogeneous distribution of haemoglobin F using fluorescent anti-haemoglobin F antibodies., Br. J. Haematol. , 32(1), 55-63, 1976 PubMed
  4. Ojwang PJ, Nakatsuji T, Gardiner MB, Reese AL, Gilman JG, Huisman TH, Gene deletion as the molecular basis for the Kenya-G gamma-HPFH condition., Hemoglobin , 7(2), 115-23, 1983 PubMed
  5. Waye JS, Cai SP, Eng B, Chui DH, Francombe WH, Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya., Am. J. Hematol. , 41(4), 289-91, 1992 PubMed
  6. Rai DK, Alvelius G, Landin B, Identification of Hb Kenya (Agamma81Leu-beta86Ala) by electrospray mass spectrometry., Hemoglobin , 26(1), 71-5, 2002 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-05-13 09:13:06 (Show full history)

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