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Platelet secretion defects and increased CD63 expression in Hermansky-Pudlak syndrome: a case report
Massoumeh Shahbazi1, Minoo Ahmadinejad2
1Research Center of Thalassemia and Hemoglobinopathies, Ahwaz Jondishapour University of Medical Sciences, Ahvaz.
None:
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by clinical features including oculocutaneous albinism (OCA) and bleeding diathesis due to platelet storage pool deficiency. In this article, we report a 12-year-old boy with recurrent epistaxis who was referred to the Iranian Blood Transfusion Organization (IBTO) reference coagulation laboratory for platelet function analysis. Based on the laboratory diagnostic tests in this study and the patient's clinical presentation, the probability of HPS type 2 is more likely.
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