Shahbazi Massoumeh, Ahmadinejad Minoo
Research Center of Thalassemia and Hemoglobinopathies, Ahwaz Jondishapour University of Medical Sciences, Ahvaz.
Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
Blood Coagul Fibrinolysis. 2025 Jul 1;36(5):208-211. doi: 10.1097/MBC.0000000000001366. Epub 2025 May 2.
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.
Hermansky-Pudlak综合征(HPS)是一种常染色体隐性疾病,其临床特征包括眼皮肤白化病(OCA)以及因血小板储存池缺乏导致的出血素质。在本文中,我们报告了一名12岁反复鼻出血的男孩,他被转诊至伊朗输血组织(IBTO)参考凝血实验室进行血小板功能分析。基于本研究中的实验室诊断测试以及患者的临床表现,2型HPS的可能性更大。