What is Beta-Thalassemia?

Beta-thalassemia (β-thalassemia) is a form of thalassemia due to mutations in the HBB gene on chromosome 11 , 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 are 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.

Further Reading


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Last Updated: Feb 1, 2011

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