Hemochromatosis

Hemochromatosis (also known as hereditary hemochromatosis or HH) is an inherited disorder of iron metabolism that occurs primarily in Caucasians. People with hemochromatosis absorb more iron than their body needs. As the body does not have a way to excrete excess iron, there is a progressive buildup of iron in tissues and organs. Eventually, the iron overload can lead to dysfunction and failure of several organs, notably the heart, liver, and endocrine portion of the pancreas. Complications include arthritis, diabetes, liver cirrhosis, heart arrhythmias and failure, and an increase in skin pigmentation termed “bronzing.”
Approximately 1 in 10 Caucasians have one abnormal (or mutated) copy of the gene associated with hereditary hemochromatosis and are called carriers. Carriers are not at risk for developing iron overload. About 1 in every 300 Caucasians has two mutated copies of the gene associated with HH and are at risk for developing iron overload and clinical symptoms. However, most people who carry two mutated genes never develop signs and symptoms of the disease. The reason for this is unknown, and research is ongoing to determine the percentage of individuals who eventually become sick with the disease.

Laboratory testing for hemochromatosis begins with two blood tests, iron and TIBC, from which the transferrin saturation is calculated. Serum ferritin is frequently measured as well to evaluate the body’s iron stores and estimate the degree of iron overload. The values for both tests are elevated in patients with hemochromatosis. The diagnosis is usually confirmed by genetic testing or, in some cases, by examination of a liver biopsy specimen.

Treatment of hemochromatosis consists of withdrawing a pint of blood at frequent intervals to reduce body iron stores. The frequency and length of treatment depend on the degree of iron overload. The U.S. Food and Drug Administration recently approved the use of blood from hemochromatosis patients as donor blood.