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hemochromatosis type 3

MIM.604250

Tuesday 5 August 2008

Definition: Hemochromatosis type 3 (HFE3) (MIM.604250) is an autosomal recessive disorder, caused by mutation in the gene encoding transferrin receptor-2 (TFR2) (MIM.604720), which maps to 7q22.

The iron-overload phenotype associated with mutations in the gene encoding transferrin receptor 2 (TFR2) appears to be very similar to that of classic, HFE-related hemochromatosis.