Hemochromatosis Research Paper

Hereditary hemochromatosis (HH) is a genetic disorder commonly known as the iron overload disease; the body is caused to absorb and store excessive amounts of iron. It is most prevalent in locations with significant populations of people who derive from Northern European descent. HH is found to be is the most common inherited liver disease in Caucasians and the most common autosomal recessive genetic disease. The most common gene involved in causing Hereditary Hemochromatosis is the HFE gene. Two mutations of the HFE gene, known as C282Y and H63D, were found to be associated with the increased absorption and storage of iron that is characteristic of hereditary hemochromatosis. Because hereditary hemochromatosis is an autosomal recessive
Though hemochromatosis is not curable at the present time, the combination of early diagnosis and treatment can effectively reduce the body's iron overload, prevent organ damage, and enable patients to lead normal and productive lives. If left untreated, progressive accumulation of iron in the liver, pancreas, heart, joints, and the pituitary gland can lead to potentially serious and life-threatening diseases such as: formation of scar tissue on the liver, liver failure, arthritis, arrhythmia, or liver cancer. Early symptoms of HH are nonspecific but may include severe weakness or fatigue, unexplained joint or abdominal pain, signs of liver disease, diabetes, or heart problems, impotence, infertility, and loss of menstrual
Treatment may be able to prevent, delay, or sometimes reverse complications of the disease. Initially, blood may be drawn once or twice weekly during the de-ironing phase until the level of iron in the body has dropped to normal. In many cases, it requires 2 or 3 years of periodic phlebotomy to reach the desired level. After the de-ironing phase, when the serum ferritin level has fallen into the normal range, the patient usually remains on a maintenance schedule of three to four phlebotomy sessions a year. Doctors check ferritin levels annually to monitor iron accumulation. For most people, this treatment will continue for life. When the diagnosis of hemochromatosis is made it is important to adjust the diet so that too much iron is not being absorbed because of an improper diet. The biggest considerations are not to take medications which contain iron, consume too much alcohol, or Vitamin