July is Hemochromatosis Screening Awareness Month. Hemochromatosis, a serious chronic condition that develops when the body absorbs too much iron over many years and excess iron builds up in organ tissues like the heart or liver, is one of the most commonly inherited genetic disorders.

Kyle Brown, MD, a hepatologist at University of Iowa Hospitals and Clinics says any close family member of someone who is diagnosed with hemochromatosis should be screened. Although there has been a case made for wide-scale population-based screening that is not recommended currently.

"The first-line tests are blood tests," she says. "Depending on the circumstances, these would include serum iron measurements and/or genetic testing. Not everyone with hemochromatosis who is undiagnosed will necessarily get sick, but in general, hemochromatosis is a disease that manifests in middle age or later. The cause of the problem is a mutation that causes the intestine to absorb too much iron, so hemochromatosis is a genetic disease."

Hemochromatosis is often asymptomatic in the early stages, but there can be nonspecific symptoms, such as fatigue, joint aches, impotence in men, etc. "While not everyone develops problems," Brown says, "hemochromatosis, if left untreated, can cause serious damage to multiple organs. Damage to the liver is often the first problem to be recognized, which can show up as cirrhosis and/or liver cancer. Heart failure, diabetes, arthritis, and skin pigmentation can also be late findings."  

Treatment includes a phlebotomy, or large-volume blood draw such as a blood donation, hence pulling off iron. "People diagnosed with hemochromatosis may need phlebotomies for the rest of their lives. Most patients will undergo an intensive course of phlebotomy that can last a year or longer, but then will need only "maintenance" phlebotomies three to four times a year," she says.  

People with hemochromatosis can donate blood with some qualifications. "First, they obviously can't if they have any disease that can be spread by transfusion, such as hepatitis C. Secondly, when the phlebotomies are done for a "therapeutic" purpose, the blood is discarded and not used for transfusion. However, there is nothing intrinsically harmful or bad about the blood and maintenance phlebotomies, for example, could be accomplished by periodic blood donation.

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