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Blood, 1 September 2004, Vol. 104, No. 5, pp. 1243-1252.
Prepublished online as a Blood First Edition Paper on May 11, 2004; DOI 10.1182/blood-2004-02-0595.
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Submitted February 17, 2004
Accepted April 6, 2004
Recessively inherited coagulation disorders
Pier M Mannucci*, Stefano Duga, and Flora Peyvandi
A. Bianchi Bonomi Hemophilia and Thrombosis Center and Department of Internal Medicine and Dermatology, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy
* Corresponding author; email: piermannuccio.mannucci{at}unimi.it.
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 2,000,000 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 well established as for hemophilia A and B. We investigated more than 1,000 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 briefly outlined.
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