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Beta-thalassemia HBB/LCRB

MedGen UID:
1001603
Concept ID:
CN322236
Disease or Syndrome
Synonyms: beta-thalassemia; beta-thalassemia HBB/LCRB; thalassemia, beta; thalassemia, hispanic gamma-delta-beta
 
Genes (locations): HBB (11p15.4); HBB-LCR (11p15.4)
 
Monarch Initiative: MONDO:0013517
OMIM®: 613985

Authors:

Additional description

From OMIM
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). For a review of beta-thalassemia, see Taher et al. (2021).  http://www.omim.org/entry/613985

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