Hereditary Hemochromatosis Rachel May

Hereditary Hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints.

This is a picture of a normal liver and the liver of a person with hereditary hemochromatosis.

The HFE gene, that produces transferrin, is most commonly the cause of hereditary hemochromatosis. We inherit one HFE gene from each parent, if only one of the HFE genes is abnormal, then you will not develop hereditary hemochromatosis. If both of the HFE genes are abnormal, then you can develop hereditary hemochromatosis, but it is not certain that you will. About 1 in 300 people have both defective genes in the US, and 1 in 9 of those people will not get hereditary hemochromatosis. An estimated 1,000,000 people have hereditary hemochromatosis in the world. It is thought to be the most common autosomal recessive disorder in Caucasian populations, and seen more often in men than in women You can tell whether or not you have these mutations in your HFE gene through molecular genetic testing.

Some people with hereditary hemochromatosis never develop symptoms. Joint pain, fatigue, and weakness are often early signs of hereditary hemochromatosis. Some later symptoms are diabetes, heart failure, and liver failure. If found early on, hereditary hemochromatosis can be treated by removing excess iron from the body. A way to reduce the amount of iron in the body is to remove some of the red blood cells in the patient's body. A patient can be required to have this done once or twice a week, depending on how severe their condition is. If left untreated, hereditary hemochromatosis can cause diabetes, an irregular heart beat, arthritis, liver cancer, depression, hypothyroidism, and grayness of the skin.

An association between hemochromatosis and HLA-A3 was first suggested in 1976 and then 20 years later, a team of scientists in California identified the HFE gene, that causes hereditary hemochromatosis. In recent years, scientists have been studying how the HFE gene would regulate iron levels normally, how iron can injure the body, and what age testing would be most effective.

Works Cited

Classic Hereditary Hemochromatosis. rarediseases.org/rare-diseases/classic-hereditary-hemochromatosis/#affected-populations.

Cure Research for Hemochromatosis. www.rightdiagnosis.com/h/hemochromatosis/research.htm.

Hemochromatosis. www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/dxc-20167290.

Hemochromatosis. health.usnews.com/health-conditions/digestive-disorders/hemochromatosis/overview.

Hemochromatosis.org. www.hemochromatosis.org/#overview.

Hereditary Hemochromatosis Since Discovery of the HFE Gene. clinchem.aaccjnls.org/content/47/7/1147.

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