IthaID: 1498
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- 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
- 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
- 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
- Wood WG, Clegg JB, Weatherall DJ, Gyde OH, Obeid DA, Tarlow MJ, Brown MJ, Hewitt S, G gamma delta beta thalassaemia and g gamma HPFH (Hb Kenya type): comparison of 2 new cases., J Med Genet, 14(4), 237-44, 1977 PubMed
- 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
- 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
- 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 2022-10-19 15:34:09 (Show full history)
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