Beta-thalassemia overview: Difference between revisions

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Raviteja Reddy Guddeti (talk | contribs)
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'''Beta-thalassemia''' (β-thalassemia) is a form of [[thalassemia]] due to mutations in the [[HBB]] gene on [[chromosome 11]] <ref>{{OMIM|141900}}</ref>, inherited in an [[autosomal recessive]] fashion.  
'''Beta-thalassemia''' (β-thalassemia) is a form of [[thalassemia]] due to mutations in the [[HBB]] gene on [[chromosome 11]] <ref>{{OMIM|141900}}</ref>, inherited in an [[autosomal recessive]] fashion.  
The severity of the disease depends on the nature of the mutation.
* Mutations are characterized as (β<sup>o</sup>) if they prevent any formation of β chains.
* Mutations are characterized as (β<sup>+</sup>) 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<sup>+</sup> is relative to β<sup>o</sup>, 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.


==References==
==References==

Revision as of 16:22, 21 September 2012