Beta-thalassemia overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Beta-thalassemia (β-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.
- Mutations are characterized as (βo) if they prevent any formation of β chains.
- Mutations are characterized as (β+) if they allow some β chain formation to occur.
- Alleles without a mutation that reduces function is characterized as (β). (Note that the "+" in β+ is relative to βo, not β.)
In either case there is a relative excess of α 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.