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rs34139813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 homozygous Hb Crete
(C;G) 2 Heterozygous Hb Crete
(G;G) 0 Normal hemoglobin
ReferenceGRCh38 38.1/141
Chromosome11
Position5225657
GeneHBB
is asnp
is mentioned by
dbSNPrs34139813
ebirs34139813
HLIrs34139813
Exacrs34139813
Varsomers34139813
Maprs34139813
PheGenIrs34139813
hapmaprs34139813
1000 genomesrs34139813
hgdprs34139813
ensemblrs34139813
gopubmedrs34139813
geneviewrs34139813
scholarrs34139813
googlers34139813
pharmgkbrs34139813
gwascentralrs34139813
openSNPrs34139813
23andMers34139813
23andMe allrs34139813
SNP Nexus

SNPshotrs34139813
SNPdbers34139813
MSV3drs34139813
GWAS Ctlgrs34139813
Max Magnitude3
rs34139813 is a SNP for the Hemoglobin beta HBB gene, which is responsible for the protein beta-globin, a component of hemoglobin inside red blood cells. Usually, hemoglobin contains two subunits of beta-globin and two subunits of alpha-globin. Variations in the HBB gene can be unnoticeable, while others may affect a persons health, resulting in various hemoglobin disorders such as beta thalassemia, sickle cell disease, and hemoglobin C.

In 1979, a new mutant hemoglobin with high oxygen affinity was discovered in a Greek family and called Hemoglobin Crete [PMID 36184], but the patients were heterozygous only for Hb Crete and often also had mutations for beta-thalassemia which affects the same gene. This mutant Hb was identified as resulting from a Ala129Pro missense mutation in HBB and identified by sequencing as rs34139813 (G->C) [PMID 15658190]. In 2005, a homozygous Hb Crete individual without any additional beta-thalassemia mutations was identified [PMID 15885607].

The Hb Crete phenotype (both homozygous and heterozygous) is associated with erythrocytosis and microcytosis. Hb Crete patients may have functional anemia, with a thalassemic-like phenotype as a result of a deficit of beta-globin chains. Patients may also have elevated cardiac output ultimately leading to cardiac insufficiency [PMID 15885607].

OMIM141900
DescHEMOGLOBIN--BETA LOCUS; HBB
Variant0058
Relatedalso
OMIM141900
Desc
Variant0500
Relatedalso


ClinVar
Risk rs34139813(A,C;A,C)
Alt rs34139813(A,C;A,C)
Reference rs34139813(G;G)
Significance Other
Disease HEMOGLOBIN MONT SAINT-AIGNAN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MONT SAINT-AIGNAN
Reversed 1
HGVS NC_000011.9:g.5246887C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016856.2,



[PMID 11300350] Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.