Human pathology

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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.