Hemochromatosis

A reader asks what it means to be a carrier of hereditary hemochromatosis and whether it would be beneficial to periodically remove a unit of blood.

Many of us have never heard of hemochromatosis, yet it is one of the most common hereditary disorders, if not the most common disorder. Hemochromatosis is a condition that occurs due to an abnormality in iron metabolism. This leads to an accumulation of iron in the body even though there is no excessive iron intake by the individual. Periodic blood drawing is the usual method of preventing an excessive accumulation of iron.

Hereditary hemochromatosis is a recessive condition which means that an individual must inherit two copies of the defective gene, one from each parent, in order to be affected. A carrier is an individual who has only one of the defective genes and is therefore not at risk for the disorder nor in need of removing blood.

An interesting difference exists between males and females with hemochromatosis. In the male, periodic blood drawing is recommended for treatment, but for the female this is not necessary due to natural blood loss during the menstrual cycle.

Approximately 10% of hemochromatosis patients have no detectable genetic mutation of the hemochromatosis gene. To be absolutely certain of a diagnosis in these cases, the doctor may order a transferrin saturation and serum ferritin assay to rule out the disorder.