Objective To describe the clinical and magnetic resonance imaging (MRI) features of a hereditary hemochromatosis (HH) pedigree (A) and its collateral (B) .Methods Clinical, biochemical, liver biopsy and MRI studies were carried out among the family members.Results (1) Some of the pedigree members showed hemochromatosis correlating symptom and physical sign.The biochemical values presented different abnormal elevation. (2) 3 patients received liver biopsy, of which 2 patients suffered from extensive hepatic hemosiderin deposition which was revealed after the Prussian blue iron stain, and 1 patient was quite normal. (3) Iron overload was found in some members of the pedigree, especially in the liver, pancreas, heart and the spleen by showing low signals on MRI, but no iron overload was observed in the brain and kidney.Conclusion (1) Iron overload was found primarily in the liver and then in the heart, spleen and pancreas of HH members of A portion of the pedigree;only some members of B portion were found having abnormal biochemical examination and iron overload in some organs, without any hemochromatosis correlating symptom and physical sign.Further follow up were needed to know if they were on the early stage of HH. (2) Compared with the liver biopsy, MRI is more accurate diagnostic tool for iron overload in tissues.
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