Autosomal recessive deficiencies of coagulation factors

F. Peyvandi, R. Asselta, P. M. Mannucci

Research output: Contribution to journalArticlepeer-review

Abstract

Deficiencies of coagulation factors that cause a bleeding disorder, other than factor VIII and factor IX, are inherited as autosomal recessive traits and are generally rare, with prevalence in the general population varying between 1 in 500000 and 1 in 2000000. 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 where consanguineous marriages are frequent. As a consequence of 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 hemophilia A and B. This article reviews these disorders, in terms of clinical manifestations and characterization of the molecular defects. The general principles of management are also discussed.

Original languageEnglish
Pages (from-to)369-388
Number of pages20
JournalReviews in Clinical and Experimental Hematology
Volume5
Issue number4
DOIs
Publication statusPublished - Dec 2001

ASJC Scopus subject areas

  • Hematology

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