Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is a genetic condition that may lead to a buildup of iron in tissues throughout the body and is one of five types of hemochromatosis, by far the most common type. Humans absorb iron through the digestive system, but except for blood loss/hemorrhage, humans have no way of getting rid of excess iron. This is why women with HH don’t usually exhibit symptoms until after entering menopause. Normally, the body regulates its supply of iron by raising or lowering the amount of circulating transferrin. Transferrin will bind to iron in the gut and transport it to the organs, where iron is stored within a protein called ferritin. Anemia causes the liver to produce more transferrin. Also, since anemia will usually cause the bone marrow to demand more iron, iron levels, as measured by ferritin, will be low. So a person with a high transferrin level, called transferrin saturation, and a low ferritin may have iron deficiency anemia. But believe it or not, even with all the medical knowledge we have today, the exact mechanism of control of iron absorption is still not fully known. Details of the feedback control loop governing transferrin and ferritin are not fully understood.

What is understood is that HH is an autosomal recessive genetic disease, meaning that a person with HH must have two defective HFE genes, one from each parent. The parents, with one defective HFE gene each, will be asymptomatic and are known as carriers. HH is almost exclusively seen in those of Northern European descent, especially Celts. Because iron is stored in the organs, it is there that HH manifests itself. Organ damage can be seen in the liver (cirrhosis and liver cancer), the pancreas (diabetes), the heart (heart failure and cardiomyopathy), and the sex organs (erectile dysfunction and sterility). Symptoms of HH may include fatigue, joint pains, abdominal pain, loss of sex drive, and bronze-or grey- skin color. But fortunately, because symptoms may not develop until the patient has had HH for years, most people with HH will be diagnosed before symptoms begin to appear.

Diagnosing HH is relatively simple. A blood test showing iron overload, based on an elevated serum transferrin level (TSAT), increased ferritin, or both with an elevated serum iron level, is highly suggestive of HH. Additional blood tests should check for liver and kidney abnormalities, and a liver biopsy is usually used to confirm HH. Once HH is confirmed, genetic relatives including parents, siblings, and children of the patient should be tested. Treatment may include the use of various binding and chelating agents to bind and remove iron from the body, but the simplest treatment method uses an ancient treatment method called bloodletting, commonly known as phlebotomy today. Once diagnosed, the patient donates a pint of blood a week for about four weeks, then monthly thereafter. Unfortunately, no method has yet been devised that will slow down or stop iron absorption. Once a phlebotomy regimen has begun, any form of restricted diet is unnecessary, except, of course, avoiding any iron or vitamin C supplements. Patients with HH should maintain a healthy body weight and use alcohol in moderation because obesity and alcohol abuse both increase the risk of liver cancer.

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