Global prevalence of platelet-type von Willebrand disease.

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Tác giả: Andrea Cairo, Maha Othman, Flora Peyvandi, Omid Seidizadeh

Ngôn ngữ: eng

Ký hiệu phân loại: 523.855 Globular clusters

Thông tin xuất bản: United States : Research and practice in thrombosis and haemostasis , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 471365

BACKGROUND: Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant disorder. It is caused by gain-of-function gene variants in the platelet OBJECTIVES: To establish the worldwide and within distinct ethnic groups prevalence of PT-VWD. METHODS: We used available exome and genome sequencing data of 807,162 (730,947 exomes and 76,215 genomes) subjects from the Genome Aggregation Database (gnomAD-v4.1). RESULTS: Among the 1,614,324 alleles analyzed in the gnomAD population, there were 1397 distinct CONCLUSION: This population-based genetic epidemiology analysis indicates a substantially higher than expected frequency of PT-VWD. This novel finding suggests that a large number of PT-VWD patients are still under- or misdiagnosed.
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