prothromben gene mutation?

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Joined: Sun Nov 09, 2008 1:23 am
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prothromben gene mutation?

Postby ethansmommy8506 » Sun Nov 09, 2008 2:06 am

I am a 25 yr old mother of a two year old. Before I successfully gave birth to my son I had 7 misscariages, and 1 molar pregnacy. When the Doctors decided to investigate as to why this was happenning to me they ran numerous tests including a battery of blood tests, when the diagnosis of prothromben gene mutation was discovered. Whenever I search the internet to try to have a better understanding of this dissorder it is always in terms I don't really understand. I want to know: what is it? How did I get it? Did I give it to my son? Will I realistically throw a clot? Are there treatments? where in the body does this disorder originate from? etc... Does any one have the answers I have been searching for?!

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Dr. Safaa Mahmoud
Medical Doctor
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Joined: Sat Jan 04, 2003 7:53 am

Re: prothromben gene mutation?

Postby Dr. Safaa Mahmoud » Tue Nov 11, 2008 5:49 pm

The prothrombin gene mutation is a genetically acquired trait. It is relatively uncommon condition that is more common in the Caucasian population.

It can be seen in about 2% of the general population, 6% in patients with history of DVT and 18% in patients with positive family history.
The gene is located in one of our chromosomes which is chromosome number 11

Simply, chromosomes carry two gene copies for each specific protein that has specific function in our body.
When this gene has an error in one or the two copies, it codes for an abnormal protein with abnormal function ( may be as lost, increased or new function).

The coagulation factor prothrombin (factor II) converts into thrombin, a key enzyme in the coagulation process and haemostasis.
When its gene is mutated, an increased prothrombin levels would result and a higher risk of venous thrombosis would occur. This would put you at an increased risk for devolving DVT (mild) and at a greater risk if other factors are there.

If DVT occurs anticoagulation therapy is given and evaluation of the risk of recurrence would make the physician decides the benefit from chronic anticoagulation (long-term anticoagulation). At this time, there are no data supporting the long term use of anticoagulants in patients with the prothrombin gene mutation. But these patients are always kept under strict precautions to avoid DVT when they at risk like going for surgical operations or being bed ridden for a time.

Whether you will transfer this to your child or not, the answer is yes, there is a possibility. But since it it is usually a heterozygous type mutation which means one copy of the gene is normal and the other is mutated, the possibility is about 50%. So if your child will inherit the normal copy, there will be no problem at all and vise versa. This is also based on assuming that his father has normal gene copies.
This can be confirmed by geneting testing.

Hope you find this useful.
Best regards.
This answer does not substitute for direct medical consultation.

Dr. Safaa Mahmoud.
MB BCh, MSc Internal Medicine. MD Medical Oncology.
PhD Experimental Medicine and Biochemical Science.

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