Preferred Label : Beta-thalassemia;
Type : Phenotype, molecular basis known;
Description : Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2),
which results from the reduced synthesis of beta-globin chains relative to alpha-globin
chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis.
The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975). Absence
of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin
causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into
thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate
severity), and thalassemia minor (asymptomatic, carrier state). The molecular and
clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999). The remarkable
phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations
at the HBB locus, the action of many secondary and tertiary modifiers, and a wide
range of environmental factors (Weatherall, 2001).;
Prefixed ID : #613985;
Origin ID : 613985;
UMLS CUI : C0005283;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
