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The familial multiple coagulation factor deficiencies (FMCFDs) are a group of rare haemostatic disorders of genetic origin in which there is reduced plasma activity of more than one coagulation factor. FMCFDs may arise from co-incidental inheritance of separate coagulation factor deficiencies or from a single genetic or cytogenetic defect. All the FMCFDs present significant challenges in diagnosis and management yet there is little systematic evidence with which to guide clinical practice. This review summarizes the historical literature that describes the FMCFDs and introduces a refined classification of these disorders. The clinical and laboratory characteristics of the most common FMCFDs are considered in detail.

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Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

Jayandharan

Shaji

Nair

et al. 2005

Journal of Thrombosis and Haemostasis

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in any of our own patient cohorts (20209C fi A was not tested). At the level of the caucasian population, these variations will therefore not contribute significantly to the observed variation in prothrombin levels and to the development of venous thrombosis. However, this does not mean that such variations are not functional. Our results showed that the A to C change at position 20207 and the A to G change at position 20218 do not result in major changes in the position of the poly(A) attachment site, in the effectiveness of polyadenylation or in protein expression. Based on the results obtained with our model system, we would expect that these mutations do not contribute to the thrombotic risk of the patients carrying them. This is in contrast with our results on the 20210G fi A mutation [10], using the same experimental setup as used for the analysis of the present two variations, and with the results of Danckwardt et al. [9], who showed that the 20221C fi T change also results in increased activity of the prothrombin polyadenylation region. References

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Cited by 3 publications

References 8 publications

Is Bleeding Time Measurement Useful for Choosing the Liver Biopsy Route? The Results of a Pragmatic, Prospective Multicentric Study in 219 Patients

Is Bleeding Time Measurement Useful for Choosing the Liver Biopsy Route? The Results of a Pragmatic, Prospective Multicentric Study in 219 Patients

Familial multiple coagulation factor deficiencies – chance associations and distinct clinical disorders

Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

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