Hemochromatosis is a genetic disorder where the body absorbs too much iron. The excess iron is deposited in many organs including the heart, pancreas, joints, testis and the liver. Iron accumulation within the liver can lead to cirrhosis and liver cancer.
Patients with hemochromatosis are found to have elevated levels of iron and iron carrying proteins in the blood. These patients may also have elevated liver enzymes when enough iron is deposited within the liver and is damaging the liver.
Patients may also develop an irregular heart beat if too much iron is deposited within the heart, diabetes if too much iron is deposited within the pancreas, arthritis is too much iron is deposited within the joints and impotence if too much iron is deposited within the testis.
Since hemochromatosis is a genetic disorder one of the most important things to do once a patient with hemochromatosis has been identified is to test all siblings and children of the patient for this gene. A blood test for the defective gene is available. Relatives of the patient found to have the defective gene should consult their physician regarding the proper course of action.
The treatment for hemochromatosis is phlebotomy, to remove blood. Since red blood cells contain a lot of iron, phlebotomy removes iron. After each phlebotomy iron moves from the organs where it has deposited, like the liver, to the bone marrow to make more blood. Over time all iron has moved out of the organs where it does not belong. The number of phlebotomies required to remove all iron from the organs where it does not belong depends upon how much iron is stored within these organs. For the average patient with hemochromatosis this requires approximately 6 months of weekly phlebotomy. If phlebotomy is performed less frequently than once weekly it may take significantly longer.
Once all iron has been removed for these organs phlebotomy can be stopped for prolonged periods of time. However, since the genetic disorder is always present and the body is always keeping too much iron the average patient will require phlebotomy every 3-4 months to prevent further iron accumulation.