What are the different types of hemochromatosis?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

The gene for hemochromatosis type 1 (HFE1), the result of the C282Y and H63D mutations, is located at band 6p22 and encodes a protein containing 343 amino acids. However, 2 other types of hemochromatosis have been identified: juvenile hemochromatosis (JH) or type 2 (gene HFE2), which has been mapped to band 1q21, [19, 20] and an adult form defined as hemochromatosis type 3 (HFE3), which results from mutations of the transferrin receptor 2 gene (TfR2) located on band 7q22. The clinical appearance of different types of hemochromatosis could be similar. This speculation also relates to JH with late onset. Therefore, patients with hemochromatosis without HFE mutations should be evaluated for other possible types of hemochromatosis.


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