Case Reports
27 November 2024
Vol. 3 No. 3 (2024)
https://doi.org/10.4081/btvb.2024.150

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

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Congenital platelet function disorders, platelet genetics, platelet function tests
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Authors

Lisa Pieri
https://orcid.org/0000-0003-1812-8072
Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.
Silvia Linari
https://orcid.org/0000-0002-5849-7377
Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.
Francesca Salvianti
https://orcid.org/0000-0003-3235-4033
Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.
Monica Attanasio
https://orcid.org/0000-0003-2848-9234
Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.
Giancarlo Castaman
giancarlo.castaman@unifi.it
https://orcid.org/0000-0003-4973-1317
Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.

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.

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Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes. (2024). Bleeding, Thrombosis and Vascular Biology, 3(3). https://doi.org/10.4081/btvb.2024.150
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