blood disease involving prothrombin?

Question

my husbands uncle just found out that he has a hedritary blood disorder, that favors the boys and I guess its involving the prothrombin. his blood clots abnormally. he had a clot go thru his lungs and heart and survived. he has clots sitting somewhere, i cant remember, but its pretty serious. and the strange thing is, his kids, my husband, my husbands sister, my mother in law, a cousin, all have the same symptom-severe migraines...could this be a link? and if it is more receptive to the male side, then I should get my son checked out for this. he is only 13 months old right now. Wouldnt they have seen it when they did the blood tests when he was born? Any way, what is this disorder called and what is the prognosis (hope i used that p word right...haha)

Here is what the disorder is called. its has had its name for only 11 years...

Prothrombin G20210A mutation on ONE allele. (heterozygous carrier

Answer 1

Hard to say. I don't know of any illness that fits all of the features you've described. The closest one I know of is Factor V Leiden mutation which causes people to form clots too easily because of the action of Factor V on the conversion of prothrombin to thrombin.

Might this be what you're thinking about?

Factor V Leiden, however, isn't inherited in a manner that makes boys more likely to get it that girls. The only blood clotting disorders I know of that are more likely to be inherited by boys than girls are some of the hemophilias - but in these illnesses, the patient does not clot QUICKLY ENOUGH whereas it sounds like your husband's uncle's trouble is that he clots TOO QUICKLY.

Answer 2

In haemophilia, transmitted as a sex-linked recessive disorder (ie it is carried on the X chromosome, and is therefore transmitted from the grandfather, through his daughter, to the grandson; that is why it is eight times more common in males eg the kings in the royal family had it, but not the queens!!), there is a bleeding tendency ie the clotting is too slow, so there is a tendency to bleed easily eg after dental treatment.

In your relative's case, there is a clotting tendency, which suggests that either the prothrombin time or clotting time is too short, (due to eg overactive platelets, thrombocytosis [too many platelets] or an imbalance between the clotting and bleeding chemicals like prostaglandin E1, fibrinogen, and thromboplastin) and therefore he developed pulmonary embolism (clot in lungs), etc.

I do not know of a connection with migraine; however, migraine has a genetic predisposition, so it is conceivable that the gene you are talking about could be very close (probably on the same chromosome) as one of the genes associated with migraine. This is only conjecture, however, and the migraine could be a coincidence.

I hope this helps.

Answer 3

C.