What is Genetic Hemochromatosis?

Genetic hemochromatosis is an iron overload disorder caused by inheritance of several mutated genes related to iron metabolism. People with this condition cannot effectively eliminate iron from the body, leading to a buildup of iron and subsequent health problems. There are a number of forms of genetic hemochromatosis, ranging from versions that start causing problems before birth to adult-onset forms. Studies on this condition suggest it is underdiagnosed in many populations.

It is estimated that around one in 200 people carries a gene for hemochromatosis. However, these mutations are so minor that most individuals do not develop any symptoms. People who inherit enough mutated genetic material can develop hemochromatosis in utero, as children, or as adults. The buildup of iron in the body causes symptoms like liver failure, joint pain, and diabetes.

In infants with a severe form of the disease, symptoms can be identified almost immediately after birth, with liver failure being a key warning sign. People who develop the disease in childhood may see a doctor about nonspecific symptoms like joint pain and fatigue for some time before the condition is accurately identified. In older adults, it can be even more challenging to spot, as the symptoms may lead a doctor to pursue a number of potential diagnoses before arriving on the right one.

The treatment for genetic hemochromatosis is relatively straightforward. The patient's metabolism cannot be corrected to process iron more efficiently, but the patient can limit ingestion of dietary iron to reduce the incoming load, and undergo regular blood draws to take iron directly out of the body. This blood can be used in blood donation, and a number of blood banks have hemochromatosis blood donor programs so patients with this condition can donate their blood to people in need of transfusions.

People with symptoms like joint pain, impotence, and diabetes may need to be evaluated for genetic hemochromatosis. Blood testing can be used to check for iron overload disorder. If the patient does have an accumulation of iron in the body, removing the iron with a series of blood donations can help alleviate the symptoms and provide an opportunity for the organs to recover from the unhealthy buildup of iron. Individuals who have been diagnosed with genetic hemochromatosis or who have a family history of the disease may want to consider meeting with a genetic counselor to talk about the implications for their children.