Recessively inherited coagulation disorders

Pier Mannuccio Mannucci, Stefano Duga, Flora Peyvandi

Research output: Contribution to journalArticlepeer-review

Abstract

Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the 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. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.

Original languageEnglish
Pages (from-to)1243-1252
Number of pages10
JournalBlood
Volume104
Issue number5
DOIs
Publication statusPublished - Sep 1 2004

ASJC Scopus subject areas

  • Hematology

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