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A 49-year-old member asked:

what mutation causes haemochromatosis?

1 doctor answer1 doctor weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info. http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis

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Similar questions

A 21-year-old member asked:

No one in my family has ever been diagnosed with hemochromatosis or had any of the symptoms; how could I possibly have this disease?

2 doctor answers3 doctors weighed in
Dr. Jack Mutnick
Allergy and Immunology 17 years experience
Hemochromatosis: Are you sure you have the disease? Have you researched all the options and truly been diagnosed. If so, you have to understand that many people are carriers of certain genes without actually having the disease. The genes they pass on can then become active if they have a child with another carrier for that genetic disease. Sadly, disease has to start somewhere...Maybe u r the 1st in ur family.
A 33-year-old member asked:

Is it possible that hemochromatosis can cause anemia?

2 doctor answers3 doctors weighed in
Dr. Richard Orr
Surgical Oncology 44 years experience
Probably not: Hemochromatosis is caused by the accumulation of excess iron in the body - eventually depositing in the liver, heart and other organs. Anemia is not a typical sign, although a few rare types of anemia (thalassemia, for example) have caused secondary hemochromatosis.
A 31-year-old member asked:

Is it possible that hemochromatosis can go into remission?

2 doctor answers4 doctors weighed in
Dr. Danny Proffitt
Family Medicine 43 years experience
With treatment only: This is the most common of genetic diseases. It is a state of iron overload due to increased absorption of iron. It is treated with therapeutic phlebotomy and monitoring of ferritin and iron levels and other testing. If one had chronic undiagnosed blood loss, perhaps one would think they were in remission. But, no, not in remission otherwise.
A 29-year-old member asked:

Is it true that phlebotomy is the recommended or effective treatment for hemochromatosis?

3 doctor answers7 doctors weighed in
Dr. Brittany Chan
Dr. Brittany Chananswered
Pediatrics 10 years experience
In some cases.: Phlebotomy is the first-line treatment for primary hemochromatosis, a genetic defect that makes a person absorb too much iron(hereditary hemochromatosis). It can prolong life expectancy, prevent complications, and relieve some but not all symptoms. Secondary hemochromatosis, which results from repeated blood transfusions, some anemias, or excessive iron therapy, is usually treated w/ iron chelators.
A 44-year-old member asked:

Could hemophilia occur due to a mutation?

2 doctor answers7 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Yes, a gene mutation: Hemophilia "A" is a hereditary bleeding disorder where there is a deficiency in clotting factor VIII (factor VIII is needed for blood clotting). It is inherited on the X-chromosome (sex-linked). Men only have 1 "X", so if their "X" is mutated, they will have the disease. Women have 2 "X's", so they can have 1 mutated "X" and 1 normal "X", and be a carrier of the disease, with mild or no symptoms.

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Last updated Dec 25, 2018
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