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Hb Kenya AND HEMOGLOBIN KENYA

Germline classification:
other (1 submission)
Last evaluated:
Jul 15, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016170.1

Allele description [Variation Report for Hb Kenya]

Hb Kenya

Gene:
HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5
Preferred name:
Hb Kenya
HGVS:
NG_000007.3:g.48195_70985del
Note:
NCBI staff provided an HGVS expression for Hb Kenya from the sequence across the breakpoint in Figure 1 of the paper by Waye et al., 1992 (PubMed 1283810).
Links:
OMIM: 142200.0025

Condition(s)

Name:
HEMOGLOBIN KENYA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036438OMIM
no assertion criteria provided
other
(Jul 15, 2011) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hemoglobin Kenya, the product of fusion of amd polypeptide chains.

Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG.

Arch Biochem Biophys. 1972 Dec;153(2):850-3. No abstract available.

PubMed [citation]
PMID:
4676910

Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family.

Kendall AG, Ojwang PJ, Schroeder WA, Huisman TH.

Am J Hum Genet. 1973 Sep;25(5):548-63. No abstract available.

PubMed [citation]
PMID:
4741849
PMCID:
PMC1762644
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036438.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Huisman et al. (1972) described a new hemoglobin in a healthy Kenyan male. The man was thought to have Hb S in combination with hereditary persistence of fetal hemoglobin. The abnormal hemoglobin was found to have a non-alpha chain with characteristics of the gamma chain at the NH2 end and of the beta chain at the COOH end. The normal Hb F contained only gamma-G chains. From further studies of the family, Kendall et al. (1973) concluded that the order of linked genes is gamma-G, gamma-A, delta, and beta. Crossing-over occurred between residues 81 and 86 of the gamma and beta chains. Among 7 chromosomes carrying the hemoglobin Kenya hybrid gene, Lanclos et al. (1987) found only 1 haplotype. Waye et al. (1992) described a 25-year-old black woman with compound heterozygosity for Hb S/Hb Kenya and a long history of anemia requiring transfusions during childhood and adolescence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024