Release Date: May 2017
CC: PC, MK, PBL, ICS, PR, SBP
Rebecca J. Laudicina, PhD, MLS(ASCP)CM
Professor Emeritus, The University of North Carolina at Chapel Hill, Division of Clinical Laboratory Science, Chapel Hill, NC
Hereditary hemochromatosis (HH) is a genetic disorder associated with increased dietary iron absorption. Over time, iron stores may increase to abnormally high levels in tissues. A small amount of iron is needed to maintain health, but the high levels found in some persons with HH can damage the liver, heart, pancreas, joints, and other organs. Symptoms of HH include: depression, fatigue, arthritis, liver disease, diabetes, heart failure, impotence, and amenorrhea. A person who inherits 2 mutations of the HFE gene may develop the iron overload of HH. A person who inherits only 1 mutation typically does not express clinical disease. As many as 1 out of every 200 persons in the U.S is homozygous for HFE mutations, and 1 of every 8 persons is a carrier. A high incidence of HH is found in persons of Celtic descent-Irish, Scottish, and English.
Because early symptoms are vague and non-specific, laboratory tests are essential for diagnosis. Recommended tests are transferrin saturation, serum ferritin, and molecular assays for HFE mutations.
Treatment for HH is therapeutic phlebotomy. Iron is thereby removed from storage sites, reversing symptoms in some cases. Ideally, treatment should be initiated before organs are irreversibly damaged.
After attending this session, participants will be able to:
· Summarize key points related to the pathophysiology, epidemiology, inheritance, and clinical presentation of hereditary hemochromatosis (HH).
· Evaluate screening and confirmatory laboratory assays useful in diagnosing and managing HH.
· Discuss patient management, including the role of the clinical laboratory in treating patients with HH.
· Identify controversies and ethical issues related to screening for HH.
Who should attend? Practicing Pathologists, Residents, Doctoral Scientists, Laboratory Managers, Bench Supervisors, Bench Technologists & Technicians, Students