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What Are The Risks When Suffering From Compound Heterozygote Abnormality?
Question: I am compound heterozygote mthfr with a pai-1 abnormality. what is my risk for developing clots or other problems.
Brief Answer:
Risk insignificant
Detailed Answer:
Thanks for posting on healthcaremagic. MTHFR gene mutation may give rise to a condition called hyperhomocysteinemia which predisposes to blood clots causing premature stroke and heart attacks in the affected patients that is before the age of 35y but for that to happen, you need to be homozygous I.e. both the genes of the pair need to be defective. In your case since you are heterozygous, your enzyme levels are not reduced and you are NOT at risk for developing hyperhomocysteinemia any more than anybody from the normal population. In other words your risk of developing clots or disease is insignificant and you need not worry about it. Please note that others from the normal population who do not have such a mutation, may also sometimes develop the diseade. It may still be worthwhile to get the blood homocysteine levels checked from time to time.
Risk insignificant
Detailed Answer:
Thanks for posting on healthcaremagic. MTHFR gene mutation may give rise to a condition called hyperhomocysteinemia which predisposes to blood clots causing premature stroke and heart attacks in the affected patients that is before the age of 35y but for that to happen, you need to be homozygous I.e. both the genes of the pair need to be defective. In your case since you are heterozygous, your enzyme levels are not reduced and you are NOT at risk for developing hyperhomocysteinemia any more than anybody from the normal population. In other words your risk of developing clots or disease is insignificant and you need not worry about it. Please note that others from the normal population who do not have such a mutation, may also sometimes develop the diseade. It may still be worthwhile to get the blood homocysteine levels checked from time to time.
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
Answered by
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