While a homozygous (or compound heterozygous) result may indicate that your patient is affected, a diagnosis of HH is established clinically using iron studies (serum transferrin saturation and serum ferritin). If not already performed, the next step is to perform iron studies to determine whether your patient is clinically affected with HH. Therapeutic phlebotomy is indicated only if the iron studies are consistent with a diagnosis of HH. Note that iron studies may be normal in premenopausal women with HH, due to regular menses. See Figure 1 for a diagnostic algorithm.1
Figure 1. HFE-associated Hemochromatosis Screening Algorithm1
LFT, liver function test; TS, transferrin saturation.
Originally published in Eijkelkamp EJ, et al. Can J Gastroenterol. 2000;14:121. Used with permission.