Hereditary hemochromatosis (HH) is a disorder of iron regulation that results in excessive dietary iron absorption through the gastrointestinal tract. Over time, the resultant iron overload and its deposition in tissue may lead to widespread organ damage, a variety of chronic disorders, and even death. Although it is a genetic disorder, clinical symptoms most typically become apparent in middle-aged adults.
Iron overload occurs in a variety of hereditary and acquired forms, collectively known as iron storage diseases. HH is the most common cause of inherited iron overload. (1) Due to lack of awareness, HH often goes undetected or unrecognized by health care providers. Early detection to prevent the serious complications associated with iron overload has important consequences for reducing morbidity and mortality. Laboratory tests that assess iron levels and molecular assays for genetic mutations are essential for detection, diagnosis, and treatment of HH.
This unit focuses only on HH. Understanding the relationship between laboratory tests and HH is important for the laboratory professional who performs the assays and may need to advise others on test selection and results interpretation.