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Hereditary hemochromatosis

Hereditary hemochromatosis Causes

Hereditary hemochromatosis is a genetic disorder caused by a mutation on a gene that regulates iron absorption. Carriers don't necessarily have the condition themselves, but can pass the mutated gene on to their offspring.

Hereditary hemochromatosis Definition

Hereditary hemochromatosis is a genetic disease that results to the body absorbing and storing too much iron. The condition gets its name from "hemo" for blood and "chroma" for color, alluding to the characteristic bronze skin tone that iron overload can cause. Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is leading to serious health problems.

Hereditary hemochromatosis Diagnosis

Hemochromatosis can be hard to diagnose in the early stages. Initial signs may mirror other diseases. Diabetes, stiff joints, and fatigue, for example, are common in hemochromatosis and other maladies.

Hereditary hemochromatosis Symptoms and Signs

Some people who test positive for hereditary hemochromatosis remain asymptomatic for life. Patients who do have symptoms may experience muscle aches and joint pain, primarily in the fingers, knees, hips, and ankles; chronic fatigue; depression, disorientation, or memory problems; stomach swelling, abdominal pain, diarrhea, or nausea; loss of body hair other than that on the scalp; premature menopause; gray or bronze skin similar to a suntan; diabetes; heart problems; enlarged liver; and an increased susceptibility to bacterial infections.

Hereditary hemochromatosis Treatment

Early diagnosis is important because the late effects of iron accumulation can be wholly prevented by periodic phlebotomies comparable in volume to blood donations. Treatment is commenced when ferritin levels reach 300 milligrams per litre (or 200 in nonpregnant premenopausal women).

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