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Beta-thalassemia (ß-thalassemia) is a form of thalassemia due to mutations in the HBB gene on chromosome 11 [1], inherited in an autosomal recessive fashion.
The severity of the disease depends on the nature of the mutation.
In either case there is a relative excess of a chains, but these do not form tetramers: rather, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations they form toxic aggregates.
Any given individual has two ß globin alleles:
Note that ß+/ß+ can be associated with ß thalassemia minor or ß thalassemia intermedia.
The genetic mutations present in ß thalassemias are very diverse, and a number of different mutations can cause reduced or absent ß globin synthesis. Two major groups of mutations can be distinguished:
Anyone with thalassemia should consult a properly qualified hematologist.
Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor).
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