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.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
