Hematology Clinical Resource Area: Hemochromatosis Overview

This disorder is a result of the patient storing an excess of iron. The individual can not physiologically excrete the excess stares of iron. Generally this excess is stored in the liver, heart and pancreas. The goal of therapy is removal of stored iron and prevention of accumulation in body and organs. This is achieved with use of chelating agents and phlebotomy. Chelating agents are available as a continuous infusion or in oral form taken at routine intervals. The infusion form requires a central venous access and compliance with therapy. Phlebotomy is used to maintain hemoglobin/hematocrit parameters.

Diagnosis: Patients require a thorough and extensive health history. This health history needs to include familial history for similar states of health or conditions. Initial patient assessment and evaluation will include serum testing for iron levels. This battery of test can include the following: serum ferritin, total iron binding capacity (TIBC), and when clinically indicated testing for HFE mutation. Some practitioners may request liver biopsy to confirm amount of iron stored in the liver. Specialized MRI testing is now available in some centers to detect excessive iron stored in organ systems. Clinical symptoms can include fatigue, abdominal discomfort and decreased endurance. If left untreated permanent organ damage and patient fatalities can occur.

Disease Overview: The disease states related to a known genetic defect. These patients often develop disease state symptoms as an adult not as a child. Excessive iron stores can be related to contributing disease states such as transfusion dependent sickle cell anemia, Thallesemia and Hepatitis. Individuals of Northern European descent are known to be at increased risk of developing this disease. Males are at greater risk then females, almost five times greater.

Patients with known disease should be instructed to take no iron supplementation. They should be followed routinely with assessment including scheduled CBC and serum Ferritin levels. Siblings of those patients with genetic mutations should be screened for the disease state.

National Heart and Blood Institute's Diseases and Conditions Index (DCI)
Provides a quick and easy way to get complete and dependable information about heart, lung, and blood diseases and sleep disorders including Hemochromatosis.

National Digestive Disease Information Clearinghouse (NDDIC)
Povides detailed information including risk factors, diagnoses and treatment hemocromatosis.