HEMOCHROMATOSIS

What is Hemochromatosis?Hemochromatosis is an iron overload

disease. It causes the body to take and store too much iron. Primary Hemochromatosis is hereditary while secondary is caused by other disorders. Juvenile Hemochromatosis causes liver and heard disease in people ages 15 to 30 and the neonatal form can lead to death in babies.

Cause of Hemochromatosis Hemochromatosis is caused by a point

mutation in the gene HFE. Two known mutations of this gene are called C282Y and H63D.

Types 1, 2, and 3 are autosomal recessive, and type 4 is autosomal dominant.

Symptoms of DisorderThe symptoms of Hemochromatosis are

severe. They include joint pain, fatigue, abdominal pain, arthritis, liver disease, possibly diabetes, heart abnormalities, impotence, early menopause, abnormal pigmentation of skin, thyroid deficiency and damage to adrenal glands.

Treatment of Hemochromatosis

Hemochromatosis can be diagnosed through medical history, physical examination and blood tests. A special blood test can detect HFE mutation. Treatment is simple. First, excess iron is removed. Maintenance therapy begins once iron levels return to normal which involves a pint of blood ever 2 to 4 months for life.

Research

Scientist are researching four subjects that can help cure hemochromatosis.

How the HFE gene regulates iron levels. How iron injures body cells How iron storage differs in everyone When is the best age for testing and the

best test method

Impact on Normal Life

Due to the variety of symptoms, people with hemochromatosis can’t work, and employers tend to shy away from a person who tend. It is also very taxing on their families because of their symptoms. However, if testing is started early, their life span is not affected.

Interesting Facts

It is suggested that Beethoven died from hemochromatosis due to his dark skin, abdominal pains, and mysterious liver failure.

Hemochromatosis is also known as the “Celtic Curse” because it is common with French, Welsh, and Scottish people.

Works Cited

http://wiki.medpedia.com/Hemochromatosis#Interesting_Facts

http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/#cause

http://www.wrongdiagnosis.com/h/hemochromatosis/research.htm

http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm

More Information

http://www.ironoverload.org/facts.html http://www.ncbi.nlm.nih.gov/pubmedheal

th/PMH0001368/