Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
159 Doctors Online

By proceeding, I accept the Terms and Conditions

Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

HCM Blog Instant Access to Doctors
HCM BlogQuestions Answered
HCM Blog Satisfaction

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
Report Abuse
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.
I find this answer helpful
Note: For detailed guidance on genetic screening consult a genetics specialist
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer. For a more detailed, immediate answer, try our premium service [Sample answer]
Share on
 

Related questions you may be interested in


Loading Online Doctors....
What Causes H63D HFE Gene Mutation?

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.