Table of Contents Next Section Molecular Genetic Testing in Mainstream Medicine Vol. It is an excellent example of a common genetic disorder with high morbidity and mortality which is preventable if diagnosed early. A DNA test for hemochromatosis has recently become available and will be a valuable aid for early detection of this disorder. Most homozygotes develop symptoms in adulthood, although the age of onset has been as young as 2 years.
Heterozygotes are usually asymptomatic.
Early symptoms in homozygotes are multisystemic and often non-specific, including malaise, fatigue, impotence, abdominal pain, or joint pain. As iron storage increases, deposits occur in organs such as the liver, heart, and pancreas, leading to organ damage and dysfunction. Late sequelae include diabetes, arthritis, congestive heart failure, cirrhosis, and hypogonadism. Bronze discoloration of the skin occurs in some patients. There is high morbidity and mortality associated with untreated hemochromatosis.