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Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes

Year: 2024

Type: article

Abstract: We report three unrelated cases of Hermansky-Pudlak (HP) characterized by novel mutations in HPS3 (compound heterozygosity for c.1457G>A and c.1813G>T), HPS6 (homozygous c.210_211insGGGCC), and HPS8 (homozygous c.299dupC in BLOC1S3) genes. No spontaneous bleeding tendency was observed despite the presence of several platelet function abnormalities. Screening test with PFA-100 failed to detect the abnormality. This report confirms the pattern of poor bleeding risk in patients with rare HP and the need for detailed platelet function studies despite normal hemostatic screening tests.

Source: Bleeding Thrombosis and Vascular Biology

DOI: 10.4081/btvb.2024.150

Authors: Lisa Pieri, Silvia Linari, Francesca Salvianti, Monica Attanasio, Giancarlo Castaman

Institution: Azienda Ospedaliero-Universitaria Careggi

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404765272

FWCI: 0.272

Cites: 7

Cited by: 1

Related to: 10