Low Prevalence of the Factor V Leiden Mutation Among “Severe” Hemophiliacs with a “Milder” Bleeding Diathesis

Arnaldo A Arbini; Pier Mannuccio Mannucci; Kenneth A Bauer

doi:10.1055/s-0038-1649922

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1995; 74(05): 1255-1258
DOI: 10.1055/s-0038-1649922

Original Article

Clinical Studies

Schattauer GmbH Stuttgart

Low Prevalence of the Factor V Leiden Mutation Among “Severe” Hemophiliacs with a “Milder” Bleeding Diathesis

Autor*innen

Arnaldo A Arbini

¹The Hematology-Oncology Division, Department of Medicine, Brockton-West Roxbury Department of Veterans Affairs Medical Center, Boston, MA, USA

²The Beth Israel Hospital, Harvard Medical School, Boston, MA, USA
Pier Mannuccio Mannucci

³The Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Institute of Internal Medicine IRCCS Ospedale Magglore and University of Milan, Milan, Italy
Kenneth A Bauer

¹The Hematology-Oncology Division, Department of Medicine, Brockton-West Roxbury Department of Veterans Affairs Medical Center, Boston, MA, USA

²The Beth Israel Hospital, Harvard Medical School, Boston, MA, USA

Abstract

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Summary

Patients with hemophilia A and B and factor levels less than 1 percent of normal bleed frequently with an average number of spontaneous bleeding episodes of 20–30 or more. However there are patients with equally low levels of factor VIII or factor IX who bleed once or twice per year or not at all. To examine whether the presence of a hereditary defect predisposing to hypercoagulability might play a role in amelio rating the hemorrhagic tendency in these so-called “mild severe” hemophiliacs, we determined the prevalence of prothrombotic defects in 17 patients with hemophilia A and four patients with hemophilia B selected from 295 and 76 individuals with these disorders, respectively, followed at a large Italian hemophilia center. We tested for the presence of the Factor V Leiden mutation by PCR-amplifying a fragment of the factor V gene which contains the mutation site and then digesting the product with the restriction enzyme Mnll. None of the patients with hemophilia A and only one patient with hemophilia B was heterozygous for Factor V Leiden. None of the 21 patients had hereditary deficiencies of antithrombin III, protein C, or protein S. Our results indicate that the milder bleeding diathesis that is occasionally seen among Italian hemophiliacs with factor levels that are less than 1 percent cannot be explained by the concomitant expression of a known prothrombotic defect.

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Referenzen

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