rs36020563
This variant is located in the HBB gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Abnormal hemoglobins with high oxygen affinity and erythrocytosisReviewWajcman H. et al.(1996)· Hematology and Cell Therapy
This review comprehensively surveys over 200 hemoglobin variants with high oxygen affinity reported since 1966. Approximately one-third of these variants cause compensatory erythrocytosis (polycythemia), with severity depending on the molecular defect. The paper explains the molecular mechanisms (alterations in R/T state equilibrium, 2,3-DPG binding, and Bohr effect), clinical presentation, diagnosis through oxygen dissociation curve measurement, and treatment approaches.
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…