Rare coagulation deficiencies

Haemophilia - Tập 8 Số 3 - Trang 308-321 - 2002
Flora Peyvandi1, Stefano Duga2, Sepideh Akhavan3, Pier Mannuccio Mannucci3
1The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and the Fondazione Luigi Villa, Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milano, Italy.
2Department of Biology and Genetics for Medical Sciences, University of Milano, Italy
3The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and the Fondazione Luigi Villa, Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milano, Italy; and

Tóm tắt

Summary.  Deficiencies of coagulation factors (other than factor VIII and factor IX) that cause a bleeding disorder are inherited as autosomal recessive traits and are generally rare, with prevalences in the general population varying between 1 : 500 000 and 1 : 2 000 000. In the last few years, the number of patients with recessively transmitted coagulation deficiencies has increased in European countries with a high rate of immigration of Islamic populations, because in these populations, consanguineous marriages are frequent. Owing to the relative rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects and the actual management of bleeding episodes are not as well established as for haemophilia A and B. This article reviews these disorders in terms of their clinical manifestations and characterization of the molecular defects involved. The general principles of management are also discussed.Keywords: afibrinogenaemia, autosomal recessive disorders, factor VIII, factor XI, factor XIII.

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Haemophilia

Tập 8 Số 3

308-321

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