Hemochromatosis, Type 3 (TFR2)
Hemochromatosis type 3 is an autosomal recessive pan-ethnic disorder caused by pathogenic variants in the gene TFR2. This disease is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is in the second decade or adulthood. Some individuals may present with symptoms including fatigue and joint pain and/or organ involvement including liver cirrhosis, diabetes mellitus, and joint disease. Regular phlebotomy to remove excess iron is necessary for the treatment. Life expectancy is normal. Due to the limited number of reported cases, no genotype-phenotype correlations are known.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.