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Hemochromatosis

by John Walsh, P.A., C.D.E.

Hemochromatosis is an inherited disease that causes excessive amounts of iron to accumulate in the body. Although diabetes can be one of many unwanted side effects of the iron overload, the rate of hemochromatosis is no higher in those with diabetes than those without.

Diabetes caused by damage to the pancreas occurs after many years of hemochromatosis. In one French study, diabetes was found in 40% of 115 people at the time their hemochromatosis was diagnosed (Acta Clin Belg 1999 Dec; 54(6): pgs. 334-45).

This type of secondary diabetes is often referred to as "bronze diabetes" because it is sometimes accompanied by a bronze color of the skin. Screening for hemochromatosis should be done in people with diabetes who also have liver disease.

Hemochromatosis is the most common genetic disease in this country with 13% of the population carrying the gene, and one in every 200 people having it.

Those at risk often have a family history of the disease, or a history of heart attacks occurring in family members before the age of 50.

Signs and Symptoms of Hemochromatosis

  • fatigue
  • diabetes
  • abdominal pain
  • liver disease
  • joint pain
  • bronze skin
  • menstrual irregularities
  • liver and pancreas cancer
  • hair loss
  • jaundice
  • impotence
  • thyroid disease

Hemochromatosis is often undetected and untreated because it is not suspected. Excess iron kills because it is a strong oxidizing agent that inflicts injury to many organs, including the pancreas, heart, liver and brain.

Diagnosis begins with suspicion. A wise physician will order iron studies that include serum iron and total iron binding capacity (TIBC) blood tests. If the serum iron divided by TIBC, called the transferrin saturation, is over 45%, a serum ferritin test is done or screening can be done for the characteristic C282Y mutation in the HFE gene. A ferritin level over 150 ug/l is strongly suggestive of hemochromatosis.

Excess iron must be removed when the serum ferritin level rises above 300 µg/l in men or over 200 µg/l in women. Phlebotomy, or the removal of blood, is the treatment of choice. The goal of treatment is to keep the serum ferritin level below 50 µg/l to prevent organ damage. Treatment can often be accomplished with weekly trips to a local blood bank.


Additional Information

Updated date: Wed, 11/26/2014 - 14:49

  • Updated date: Wed, 11/26/2014 - 14:49

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