Preferred Label : Hemoglobin--beta locus;
Symbol : HBB;
CISMeF acronym : HBB;
Type : Gene and phenotype, combined;
Included titles and symbols : Erythremia, beta-globin type;
Description : The alpha (HBA1, 141800; HBA2, 141850) and beta (HBB) loci determine the structure
of the 2 types of polypeptide chains in adult hemoglobin, HbA. Mutant beta globin
that sickles causes sickle cell anemia (603903). Absence of beta chain causes beta-zero-thalassemia.
Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical
purposes, beta-thalassemia (613985) is divided into thalassemia major (transfusion
dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor
(asymptomatic).;
Inheritance : Autosomal dominant for some such as methemoglobinemia, polycythemia,; And heinz body hemolytic anemia; Autosomal recessive for others such as sickle cell disease and thalassemia; Major;
Prefixed ID : 141900;
Origin ID : 141900;
UMLS CUI : C1415481;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- NCIt concept(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
