Case Reports
Vol. 3 No. 3 (2024)
Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes
Publisher's note
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.
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.
Received: 23 July 2024
Accepted: 18 October 2024
Accepted: 18 October 2024
1219
Views
308
Downloads
Authors
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.
Downloads
Download data is not yet available.
Citations
Hermansky, F., & Pudlak, P. (1959). Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, 14, 162–169. https://doi.org/10.1182/blood.V14.2.162.162 DOI: https://doi.org/10.1182/blood.V14.2.162.162
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Genetic variants associated with Hermansky-Pudlak syndrome. Platelets. 2020 May 18;31(4):544-547. doi: 10.1080/09537104.2019.1663810. Epub 2019 Sep 5. PMID: 32436471; PMCID: PMC8336198. DOI: https://doi.org/10.1080/09537104.2019.1663810
Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. PMID: 33147934; PMCID: PMC7849565. DOI: https://doi.org/10.3324/haematol.2020.248153
Dupuis A, Bordet JC, Eckly A, Gachet C. Platelet δ-Storage Pool Disease: An Update. J Clin Med. 2020 Aug 4;9(8):2508. doi: 10.3390/jcm9082508. PMID: 32759727; PMCID: PMC7466064. DOI: https://doi.org/10.3390/jcm9082508
Bowman M, Riddel J, Rand ML, Tosetto A, Silva M, James PD. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire. J Thromb Haemost. 2009 Aug;7(8):1418-21. doi: 10.1111/j.1538-7836.2009.03499.x. Epub 2009 May 30. PMID: 19496919. DOI: https://doi.org/10.1111/j.1538-7836.2009.03499.x
Lohse J, Gehrisch S, Tauer JT, Knöfler R. Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome.. Hamostaseologie. 2011 Nov; Suppl 1: S61-3. PMID: 220557877. DOI: https://doi.org/10.1055/s-0037-1619752
Cordova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C,, Santiago-Borrero PJ. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2005 Jan; 44(1). Doi: 10.1002/pbc.20210. PMID: 15368543. DOI: https://doi.org/10.1002/pbc.20210
How to Cite
1.
Pieri L et al. Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes. Bleeding Thromb Vasc Biol [Internet]. 2024 Nov. 27 [cited 2026 Apr. 16];3(3). Available from: https://www.btvb.org/btvb/article/view/150
Copyright (c) 2024 The Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Similar Articles
- PO01 | Diagnosis of inherited platelet function disorders by platelet aggregometry using a fully automated coagulation analyzer , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
- Ezio Zanon, Giancarlo Castaman, Augusto Bramante Federici, Maria Elisa Mancuso, Gianfranco Pasut, Alberto Tosetto, Angiola Rocino, Rita Carlotta Santoro, Bioequivalence of von Willebrand factor-containing concentrates: implications for the choice in patients with von Willebrand disease. A position paper from the Italian Association of Hemophilia Centers , Bleeding, Thrombosis and Vascular Biology: Vol. 5 No. 1 (2026)
- Bianca Clerici, Mariangela Scavone, Gian Marco Podda, Recent advances in classic heparin-induced thrombocytopenia (HIT), autoimmune HIT, spontaneous HIT, and vaccine-induced immune thrombotic thrombocytopenia , Bleeding, Thrombosis and Vascular Biology: Vol. 3 No. 2 (2024)
- PO61 | ACTN1-related thrombocytopenia and severe hyperhomocysteinemia: a case report , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
- CS08 | A combination of two rapid immunoassays improves HIT diagnosis , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
- CO28 | Cognitive, adaptive abilities and behavioral symptoms in children and adolescents with hemophilia: a pilot study , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
- Marco Cattaneo, Guided antiplatelet therapy in patients undergoing percutaneous coronary intervention , Bleeding, Thrombosis and Vascular Biology: Vol. 2 No. 2 (2023)
- Alice Lipari, Esmeralda Capristo, Antonietta Ferretti, Erica De Candia, Anticoagulation in obese patients: challenges and strategies , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. 3 (2025)
- PO03 | Enlarged platelets with reduced GP IB/IX can indicate disorders other than Bernard-Soulier syndrome , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
- CO25 | Thromboinflammation and ros accumulation in individuals with high lipoprotein(a) levels , Bleeding, Thrombosis and Vascular Biology: Vol. 4 No. s1 (2025)
You may also start an advanced similarity search for this article.
