Hemochromatosis, Type 2A (HFE2)
Hemochromatosis type 2A, a form of juvenile hemochromatosis, is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene HFE2. Pathogenic HFE2 variants cause the body to absorb too much iron, which gets stored in tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Symptoms usually begin in the first to third decades of life, and common complications include liver cirrhosis, cardiac disease, endocrine failure, diabetes, joint disease, and changes in skin pigmentation. With treatment, which includes regular phlebotomy to remove excess iron, life expectancy is normal. No genotype-phenotype correlations have been reported.
For information about carrier frequency and residual risk, please see the residual risk table.