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.
This article is licensed under the Creative Commons Attribution-ShareAlike License.
It uses material from the Wikipedia article on
All material adapted used from Wikipedia is available under the terms of the
Creative Commons Attribution-ShareAlike License.
Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.
Last Updated: Feb 1, 2011