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

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.

Keywords

• Congenital platelet function disorders
• platelet genetics
• platelet function tests