rs33984863
This is a variant in the HBB gene that changes a glycine to an arginine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Detection and quantitation of the fetal hemoglobin variant Hb F-Malta-I in adultsFunctionalN=96Altay G. et al.(1977)· Biochemical Genetics
This study describes the detection and quantitation of Hb F-Malta-I, a fetal hemoglobin variant with a His117Arg substitution in the γ chain, in adult blood using a sensitive radioimmunoassay. The variant was detected in 15 relatives (9 parents and 6 other relatives) of heterozygous newborns at levels of 0.002-0.05% (average 0.011%), and the ratio of Hb F-Malta-I to total fetal hemoglobin decreased from 27% in newborns to 4.8% in adults, suggesting that the aγ structural locus is not completely suppressed in adulthood.
About HBB
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
View all HBB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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