Article
Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major.
The National medical journal of India - 1 Jan 2000
Kaur Gurvinder, Rapthap C Chen, Xavier M, Saxena R, Choudhary V P, Reuben S K, Mehra N K
Abstract excerpt
BACKGROUND: Mutations in the HFE gene have been shown to be strongly associated with hereditary haemochromatosis, an autosomal recessive disease of iron overloading. The majority of patients with hereditary haemochromatosis possess a homozygous mutation C282Y that disrupts the binding of the HFE gene with beta2 microglobulin and prevents its surface expression. Another HFE mutation H63D is known to increase the...
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