rs33957286
This is a variant in the HBB gene that changes a alanine to an aspartate.
▶ClinVar annotation
HEMOGLOBIN J (GUANTANAMO); not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Hemoglobin J Guantanamo [α2β2 128 (H6) Ala→Asp] in association with hemoglobin C and α‐thalassemia in a family from BeninCase reportN=5Wajcman H. et al.(1988)· American Journal of Hematology
Case report of hemoglobin J Guantanamo [a2β128(H6) Ala→Asp], a rare unstable hemoglobin variant, found in a Benin family in association with hemoglobin C and α-thalassemia. Biochemical characterization using HPLC and microsequencing confirmed the Ala128Asp substitution. The variant showed heat instability, altered oxygen-binding properties with decreased cooperativity and reduced Bohr effect, and significantly impaired red blood cell deformability.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…