Genetic Disease Research Project: Hereditary Hemochromatosis iAN EASTWOOD

My disease is Hereditary Hemochromatosis!

Accumulation of iron in stomach cells

What is the gene that the mutation occurs in to cause this disease and what protein is produced by the gene?

The HFE gene is the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two commonmutations, C282Y and H63D.

When and how was it discovered?

HFE was discovered by a team of scientists in California 1996 during hereditary disease research.

What is the incidence rate of the disease in the United States? And are there any specific populations of people affected more than others?

Mostly prevalent in Northern Europeans. With a 1 in 400 chance in United states

What are the symptoms?

Common Symptoms include joint pain and Chronic fatigue

How is the disease diagnosed?

Doctors start by identifying characteristic symptoms. If symptoms match they then check patients family history. When family comes back positive doctors preform a variety of specialized tests.

How is the disease treated?

The disease is treated by removing iron via removing blood. The treatment used is called phlebotomy and depending on the patient might have to be done every ten to fifteen years.

What is the prognosis for a patient diagnosed with the disease?

If the disease is detected early (Before or during age 40) and treated patient can live a good long life.

What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)?

This mutation is inherited as an autosomal recessive trait

What current research is being conducted on the disease or its treatments?

Believing that phlebotomy is a simple and very effective way of solving hereditary hemochromatosis the National Human Genome Research Institute has decided to stop conducting research on Hereditary Hemochromatosis.


Works Cited

“Classic Hemochromatosis.” Iron Disorders Institute, 2 Feb. 2009, Accessed 4 Feb. 2017.

“Hereditary Hemochromatosis.” National Library of Medicine, U.S. Department of Health & Human Services, 31 Jan. 2017, Accessed 4 Feb. 2017.

“Hereditary hemochromatosis since discovery of the HFE gene.” National Center for Biotechnology Information Search database, U.S. National Library of Medicine, 1 Jan. 2001, Accessed 4 Feb. 2017.

“Learning about Hereditary Hemochromatosis.” National Human Genome Research Institute, U.S. Department of Health & Human Services, 23 Oct. 2012, Accessed 4 Feb. 2017.

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