SC血红蛋白病:罕见病例报告

Fernanda Zottmann, Jiviane Silva, S. Khatib, Gabriela Guimarães, Julia Coneglian, Bibiana Vinholes, L. Gebrin, C. Borges
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引用次数: 0

摘要

SC血红蛋白病是一种罕见的镰状细胞病,患者可能会出现血管闭塞现象,但病情较SS形式轻微,SS形式被认为是经典的,也是最常见的。本研究的目的是介绍一例这种罕见的血红蛋白病的患者,他得到了很晚的诊断,其临床演变,包括症状,治疗和预期寿命,基于文献,但主要是关于患者是如何在7年的随访后被临床发现的。重要的是对血红蛋白病,特别是罕见的血红蛋白病进行流行病学研究,以获得有关该疾病的发病率/流行率和临床表现的更多信息。
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SC Hemoglobinopathy: a rare case report
In SC hemoglobinopathy, a rare type of sickle cell disease, patients may experience vaso-occlusive phenomena, but in a milder condition than in the SS form, considered classic and the most common among them. This current study aims to present a case of a patient with this rare form of hemoglobinopathy, who received a late diagnosis, and its clinical evolution, including symptoms, treatment and life expectancy based on the literature, but mainly on how the patient is clinically found after seven years of follow-up. It is important to have epidemiological studies about hemoglobinopathies, specially the rare forms, to obtain more information regarding the incidence/prevalence of the disease and clinical manifestations.
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