How does my doctor find out if I have hereditary hemochromatosis?
Hereditary hemochromatosis can be difficult to diagnose because many other conditions also can cause the early symptoms of the disease. Your doctor will ask you about your symptoms, do a physical exam and order blood tests to determine the amount of iron in your blood and the amount of iron stored in your liver. If your blood tests are not normal, your doctor might also do a test to look for an HFE gene.
Even if you are healthy, be sure to tell your doctor if you have a parent or sibling who has hemochromatosis. In some cases, your doctor may recommend that you consider having a special genetic test. This test will tell you whether you have hereditary hemochromatosis before you experience any of the signs or symptoms.
Your doctor should explain to you the benefits and risks of genetic testing, because you could have problems with your job or getting insurance if you have the HFE gene. That is why HFE gene testing usually is not recommended for children younger than 18 years of age.
Recognition and Management of Hereditary Hemochromatosis by DJ Brandhagen, VF Fairbanks, W Baldus (American Family Physician March 01, 2002, http://www.aafp.org/afp/20020301/853.html)
Written by familydoctor.org editorial staff