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.
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