Hereditary Hemochromatosis

Topics: Total iron-binding capacity, Iron metabolism, Serum iron Pages: 4 (1066 words) Published: May 13, 2011
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 disorder, in order to develop the disorder or be considered at high risk for developing hereditary hemochromatosis, an individual must acquire both copies of either of these mutated genes, one from each parent.

“In the United States about one million people have the disease, usually because of a gene mutation.” (CDC) “1 in every 8 to 10 people in the United States carries a single copy of this defective gene, called HFE whereas carriers don't necessarily have the condition themselves, but can pass the mutated gene on to their children.” (OakRidge)

In addition to the genetic mutations of the HFE gene, other factors that may increase the risk of developing hereditary hemochromatosis include: having two copies of a mutated HFE gene, family history of hemochromatosis, family history of liver disease, family history of type II diabetes, and Northern European (Celtic) descent. 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...
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