格兰兹曼血栓减少症:一例罕见的遗传性凝血障碍表现为颅脑外伤

Vishal Chakati, Durga Prasad Bukka, Srinivas Rao Erigaisi, S. Anchuri
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引用次数: 0

摘要

本病例研究涉及一名32岁的印度男性患者,他在医院表现为外伤性头部损伤,在手术后出现无法控制的出血,最终被诊断为Glanzmann血栓减少症。格兰兹曼凝血症是一种罕见的遗传性凝血障碍,其特征是由于缺乏血小板糖蛋白IIb/IIIa而导致血小板聚集不足。这种情况通常是由近亲婚姻引起的,大约百万分之一的人会出现这种情况。教育和提高社区对血缘关系的认识可能有助于减少具有挑战性的、不寻常的遗传疾病。
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Glanzmann Thrombasthenia: A Case Report of a Rare Inherited Coagulation Disorder Presenting with Traumatic Head Injury
This case study deals with a 32-year-old Indian male patient who presented with a traumatic head injury in the hospital, experienced uncontrolled bleeding after conducting surgery, and was eventually diagnosed with Glanzmann thrombasthenia. Glanzmann thrombasthenia is a rare hereditary blood clotting disorder characterised by a lack of platelet aggregation due to the absence of platelet glycoprotein IIb/IIIa. This occurrence is generally triggered by consanguineous marriages and is apparent in approximately one in one million people. Education and raising awareness about consanguinity in communities may help to reduce challenging, unusual genetic diseases.
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