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What Do My Lab Test Results Indicate?
Question: Diagnosis - Cerebral Venous Sinus Thrombosis with Frontal Parietal Haemorrhage.
29 years old male, C/o: Cerebral Venous Sinus Thrombosis with Frontal Parietal Haemorrhage. H/o Craniotomy on 30/04/2015.
As per investigation report, Homocysteine level - 23.75 mmol/L and as per Molecular analysis of Inherited Thrombophilia report found to have Homozygous Mutant for MTHFR A1298>C mutation.
Requesting you to take expert opinion whether the current ailment is genetic, in view of Hyperhomocysteinemia and Homozygous Mutant for MTHFR A1298>C mutation.
29 years old male, C/o: Cerebral Venous Sinus Thrombosis with Frontal Parietal Haemorrhage. H/o Craniotomy on 30/04/2015.
As per investigation report, Homocysteine level - 23.75 mmol/L and as per Molecular analysis of Inherited Thrombophilia report found to have Homozygous Mutant for MTHFR A1298>C mutation.
Requesting you to take expert opinion whether the current ailment is genetic, in view of Hyperhomocysteinemia and Homozygous Mutant for MTHFR A1298>C mutation.
Brief Answer:
Yes it is genetic defect.
Detailed Answer:
Hi, dear
I have gone through your question. I can understand your concern.
You have Homozygous Mutation of MTHFR A1298C. It means there is defect in gene from both parents.
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme. This can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals.
Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with thrombophilia (tendency of blood clotting).
This leads to cerebral venous sinus thrombosis.
So its purely genetic disease with complication of blood clotting in cerebral venous sinus.
Hope I have answered your question. If you have any doubts then feel free to ask me. I will be happy to answer.
Thanks for using health care magic. Wish you a very good health.
Yes it is genetic defect.
Detailed Answer:
Hi, dear
I have gone through your question. I can understand your concern.
You have Homozygous Mutation of MTHFR A1298C. It means there is defect in gene from both parents.
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme. This can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals.
Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with thrombophilia (tendency of blood clotting).
This leads to cerebral venous sinus thrombosis.
So its purely genetic disease with complication of blood clotting in cerebral venous sinus.
Hope I have answered your question. If you have any doubts then feel free to ask me. I will be happy to answer.
Thanks for using health care magic. Wish you a very good health.
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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