Patients with Hemochromatosis Often Have Normal Liver Enzyme Tests

Although hemochromatosis is considered one of the most common genetic disorders, the diagnostic rates reported by most gastroenterology and hepatology clinics are low. Elevated liver enzyme tests commonly result in referral to such clinics, which should increase the probability of finding hemochromatosis but does not. Now, researchers evaluate if genetics contributes to this paradox.

In the Hemochromatosis and Iron Overload Screening (HEIRS) Study (JW Gastroenterol Jun 28 2005), nearly 100,000 primary care patients in North America were screened for iron overload using ferritin, transferrin saturation, and HFE genotype testing. In the current substudy, investigators compared liver transaminase levels of 162 C282Y homozygotes and 1367 C282Y n…