Have doctor see if you have hemochromatosis
“You really need to educate our community about Hemochromatosis,” stated one of my patients in exasperation with her experience.
OK then. Hemochromatosis is one of the most common genetic defects. Although nearly 10 percent of persons carry a defective gene, two defective genes are needed to cause the disease and the genes have to “penetrate” — be defective in an active way. The number of impacted persons reaching these conditions is about one in 250, most commonly in Caucasians. Men are impacted earlier than women.
Hemochromastosis causes inappropriately high iron absorption. The iron overload is commonly stored in the joints, liver and pancreas causing arthritis, cirrhosis and diabetes, respectively. Untreated hemochromatosis shortens life by at least five years, whereas treatment confers a normal life expectancy. A common form of treatment is phlebotomy which removes sufficient blood (and therefore iron) from the body to ensure iron levels remain normal. This condition is easily treated here in Alpena. In addition, some persons may be unknowingly benefitting themselves by frequent blood donations.
Clinically-significant hemochromatosis can be screened for with a simple blood test (transferrin). While general screening is somewhat controversial, screening relatives of hemochromatosis patients is recommended. Genetic testing is unnecessary for the general population, is far too expensive as a screening test and would falsely identify persons in whom the disease is clinically silent. In short, finding persons with signs of iron overload is important but must be balanced by not alarming persons who may not develop the disease. There are good reasons (like insurance premiums and psychological stress) to not know about a disease that is not impacting you.
Your doctor can help determine whether you have clinically-significant hemochromatosis.
Allan P. Frank, MD, MS
Alpena
Assistant Clinical Professor
MSU College of Human Medicine