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A functional factor X deficiency

✍ Scribed by Paul Sun; Jane Hata; John Bauer; Carolyn Haibach; Doug Campbell; Medhi Farhangi; Dan Smith


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
584 KB
Volume
48
Category
Article
ISSN
0361-8609

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✦ Synopsis


Afunctional factor X deficiency is described which caused pronounced reduction in the in vitro activation of the extrinsic system while marginally affecting the in vitro activation of the intrinsic pathway. All studies were normal with the exception of a prolonged PT, an elevated factor X antigen, and low factor X activity. Western blot analysis revealed the presence of two factor X species. The abnormal molecule was of higher molecular weight. Interestingly, there was no bleeding associated with this deficiency. The biochemical basis of this defect is currently under investigation.


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## Abstract The combined presence in the homozygous state of more than one recessively transmitted coagulation defect may rarely occur in countries with a high rate of consanguinity. In an Iranian family consisting of two parents (second cousins) and two affected siblings, initial phenotypic analys