Article
Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2025
Willems Sterre P E, Cnossen Marjon H, van Es Nick, den Exter Paul L, Kruis Ilmar C, Maas Dominique P M S M, Meijer Karina, Nieuwenhuizen Laurens, Rijpma Sanna, Saes Joline L, Simons Annet, Schutgens Roger E G, Weiss Marjan, Blijlevens Nicole M A, van Heerde Waander L, Schols Saskia E M
Abstract excerpt
BACKGROUND: Limited data exist on persons with rare bleeding disorders possessing a heterozygous genotype, as most studies focus on biallelic genotypes and more severe coagulation factor deficiencies. A growing body of evidence suggests that persons with a heterozygous genotype experience clinically relevant bleeding symptoms. OBJECTIVES: This study aimed to explore the incidence of bleeding symptoms and...
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