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
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
- 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
- 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
- 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
- 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
- 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
- Rai DK, Alvelius G, Landin B, Identification of Hb Kenya (Agamma81Leu-beta86Ala) by electrospray mass spectrometry., Hemoglobin , 26(1), 71-5, 2002
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-19 15:34:09 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.