Hemochromatosis

Hemochromatosis: Description, Causes and Risk Factors: Also called as iron overload. HemochromatosisA disorder of iron metabolism characterized by excessive absorption of ingested iron, saturation of iron-binding protein, and deposition of hemosiderin in tissue, particularly in the liver, pancreas, and skin; cirrhosis of the liver, diabetes (bronze diabetes), bronze pigmentation of the skin, and, eventually heart failure may occur; also can result from administration of large amounts of iron orally, by injection, or in forms of blood transfusion therapy. ICD-9-CM: 275.0. Hemochromatosis is an inherited or genetic disorder in which there is excessive accumulation of iron in the body. It is a common genetic disorder among Caucasians in the United States, affecting approximately one in 250 to 300 Caucasians. Hemochromatosis is a disorder that interferes with the body's ability to break down iron, and results in too much iron being absorbed from the gastrointestinal tract. Types: Exogenous hemochromatosis, primary hemochromatosis, and secondary hemochromatosis. Primary it is caused by a problem with your genes or by receiving a large number of blood transfusions which boost your iron levels. Primary hemochromatosis is the most common genetic disorder in the United States, affecting an estimated 1 of every 200 to 300 Americans. Secondary or acquired hemochromatosis can be caused by diseases such as thalassemia or sideroblastic anemia, especially if the person has received a large number of blood transfusions. Occasionally, it may be seen with hemolytic anemia, chronic alcoholism, and other conditions. Symptoms: Symptoms include
  • Abdominal pain.
  • Generalized darkening of skin color.
  • Fatigue.
  • Joint pain.
  • Lack of energy.
  • Loss of body hair.
  • Loss of sexual desire.
  • Weakness.
Diagnosis: Most patients with hemochromatosis are diagnosed early and have no symptoms. Their hemochromatosis is discovered when elevated levels of iron in the blood are found as part of routine blood testing; or when blood iron levels are measured as in screening studies in family members of patients with hereditary hemochromatosis. Some patients are diagnosed as having hemochromatosis when their doctors perform blood iron levels as part of the evaluation for abnormal elevations in blood levels of liver enzymes AST and ALT. There are several blood tests that reflect the amount of iron in the body; ferritin level, iron level, total iron binding capacity (TIBC), and transferrin saturation. The most accurate test for diagnosing hemochromatosis is measurement of the iron content of liver tissue obtained by a biopsy. A liver biopsy involves the removal of a sample of liver tissue for analysis and is usually performed with a needle under local anesthesia. After numbing the skin and the underlying tissues, the doctor inserts the needle into the liver through the right lower rib cage, sometimes under ultrasound guidance. The tissue obtained by the needle is studied under a microscope for signs of active liver disease, fibrosis and cirrhosis (permanent scarring), and iron content (usually significantly elevated in hemochromatosis). Not all patients with hemochromatosis need to undergo liver biopsy. The purpose of liver biopsy is to identify those patients with cirrhosis and to exclude other possible liver diseases. Treatment Options: The most effective treatment for hemochromatosis is to reduce iron in the body by phlebotomy. Phlebotomy: Phlebotomy is the best method for removing excess iron from the body. One-half liter of blood is removed from the body until the iron level is reduced. This may require many months or even years to accomplish. After that, less frequent phlebotomy is needed to maintain normal iron levels. How often you need this procedure depends on your symptoms and your levels of hemoglobin and serum ferritin, and how much iron you take in your diet.
  • Testosterone Hormone Therapy: Testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics. Diabetes, arthritis, liver failure, and heart failure should be treated as appropriate.
If you are diagnosed with hemochromatosis you must follow a special diet so your iron levels do not increase. The diet prohibits alcohol, especially for patients who have liver damage. You will also be told to avoid iron pills or vitamins containing iron, vitamin supplements, iron cookware, raw seafood (cooked is fine), or fortified processed foods such as 100% iron breakfast cereals. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  

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