haemochromatosis type 3

haemochromatosis type 3

A rare autosomal recessive condition (OMIM:604250) that is phenotypically indistinguishable from hereditary haemochromatosis: both have abnormal intestinal iron absorption and progressive increase of total body iron, resulting in cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy and susceptibility to liver cancer, which respond to regular phlebotomies.
 
Molecular pathology
Defects in TFR2, which encodes transferrin receptor 2, cause haemochromatosis type 3.