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.

External Links

HbVar	ClinVar
OMIM

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-05-13 09:13:06	The IthaGenes Curation Team	Reviewed. Additional reference, ClinVar link and synonyms added.
4	2021-11-25 16:13:43	The IthaGenes Curation Team	Reviewed.
5	2021-12-01 15:17:56	The IthaGenes Curation Team	Reviewed. Haemoglobinopathy and Reference added.
6	2022-10-19 15:20:51	The IthaGenes Curation Team	Reviewed. Structural Hb type added.
7	2022-10-19 15:23:35	The IthaGenes Curation Team	Reviewed.
8	2022-10-19 15:27:48	The IthaGenes Curation Team	Reviewed.
9	2022-10-19 15:31:51	The IthaGenes Curation Team	Reviewed.
10	2022-10-19 15:34:09	The IthaGenes Curation Team	Reviewed.

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