Case Reports
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.
Received: 23 July 2024
Accepted: 18 October 2024
Accepted: 18 October 2024
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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
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
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Pieri L, Linari S, Salvianti F, Attanasio M, Castaman G. Impaired platelet function in Hermansky-Pudlak syndrome associated with novel mutations in HPS3, HPS6 and HPS8 genes. Bleeding Thromb Vascul Biol [Internet]. 2024 Nov. 27 [cited 2026 Jan. 26];3(3). Available from: https://www.btvb.org/btvb/article/view/150
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