Case Reports
27 November 2024
Vol. 3 No. 3 (2024)
Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
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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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Citations
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How to Cite
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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