Hemochromatosis & iron overload syndromes

(Am J Gastro 2019;114:1202)

• Recessive disorder of iron sensing or transport leading to tissue iron deposition

• HFE mutations (85% of cases): typically C282Y homozyg. (~0.5% of N. Europeans), rarely C282Y/H63D compound heterozyg. C282Y homozygotes: 28% of ♂ & 1% of ♀ develop sx (delayed since menses ↓ Fe load). C282Y/H63D: only 1.5% manifest dis.

• Non-HFE mutations: hemojuvelin, hepcidin, transferrin receptor 2, & ferroportin

• Secondary causes of iron overload:

• Sx of Hemochromatosis:

• Dx of Hemochromatosis:

• Treatment of Hemochromatosis: