HBB
MIM.141900 11p15.5
hemoglobin beta, beta-globin
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A.
Pathology
HBB mutation causes sickle cell anemia (MIM.603903).
absence of beta chain causes beta-zero-thalassemia.
reduced amounts of detectable beta globin causes beta-plus-thalassemia.