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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What causes H63D HFE gene mutation?

Hi there i recently found out i have H63D HFE gene mutation heterozygous, i have to have check upa n blood tests every 6 months,but would like to know the causes and affects it can have on me. I have fainted often from a very young age all the way up to my adult life even now, could heterozygous be why? Cause this is how i found out about it as i had a blackout at work and got a check up and my bilirubin was to high n iron at the time was to low?
Mon, 27 Aug 2018
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Pediatrician 's  Response
Hi
HFE H63D heterozygous gene mutation is one type of blood disease known as hemochromatosis(H). H is a genetic condition. Each person has two copies of the HFE gene, one from each parent. When a person has one copy mutated(or abnormal), it is known as H63D, and the person is called a heterozygote.
The normal HFE genes(one from each parent) control the amount of iron absorbed from food into the body. But if you have an abnormal H63D gene, your body may absorb too much iron which builds up in the body. This is called hemochromatosis.
Normally, humans absorb 10% of the iron in foods they eat. People with hemochromatosis absorb up to four times more iron than those without H.
If not treated, the accumulation of this extra iron can damage joints, liver, heart, and eventually cause death. The iron level in the blood is too high, not too low.
Symptoms appear in midlife with pain in knuckles of the pointer and middle fingers, chronic fatigue, joint pain.
Fainting is not related to H.
Fainting is serious if it happens with exercise, with an irregular heart beat, or with a family history of fainting or sudden death.
Hope I have answered your query.

Let me know if I can assist you further.
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