揭示脑炎:少年镰状细胞病和脑疟疾的不可能相遇。

IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Christer Ruff, Leonie Zerweck, Andrea Bevot, Jonathan Remppis, Benjamin Bender, Ulrike Ernemann, Georg Gohla
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引用次数: 0

摘要

镰状细胞病(SCD)是一组遗传性血液疾病,其中β-珠蛋白(HBB)基因突变导致红细胞产生异常血红蛋白,称为HbS。SCD的特征是常染色体隐性遗传模式,这意味着对于表现出这种疾病的儿童,他们必须从父母双方遗传一个HbS等位基因(HbSS)或一个HbS等位基因和另一个β-珠蛋白变体,如Hb C或β-地中海贫血(HbSC, HbS/β-thal)。据观察,镰状细胞特征(HbAS)的一个拷贝的(杂合子)携带者通常是健康的,甚至可以获得对严重疟疾的部分保护。“严重和复杂疟疾”一词是根据存在恶性疟原虫寄生虫病的特定临床和实验室特征来界定的。非洲儿童中流行的严重疟疾形式包括脑型疟疾、呼吸窘迫和严重疟疾性贫血。脑型疟疾是疟疾感染的一种罕见并发症,与高死亡率有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Encephalitis Unraveled: The Unlikely Encounter of Sickle Cell Disease and Cerebral Malaria in a Teenager.

Sickle-cell disease (SCD) is a group of inherited blood disorders in which a mutation in the β-globin (HBB) gene causes red blood cells to produce abnormal hemoglobin, known as Hb S. SCD is characterized by an autosomal-recessive pattern of inheritance, implying that for a child to manifest the condition, they must inherit an Hb S allele from both parents (HbSS) or one Hb S allele and another β-globin variant, such as Hb C or β-thalassemia (HbSC, HbS/β-thal). It has been observed that (heterozygote) carriers of one copy of the sickle-cell trait (HbAS) are typically healthy and can even gain partial protection from severe malaria. The term "severe and complicated malaria" is delineated based on specific clinical and laboratory characteristics in the presence of Plasmodium falciparum parasitemia. The prevalent forms of severe malaria among African children include cerebral malaria, respiratory distress, and severe malaria anemia. Cerebral malaria is a rare complication of malaria infection and is associated with a high mortality rate.

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来源期刊
Diagnostics
Diagnostics Biochemistry, Genetics and Molecular Biology-Clinical Biochemistry
CiteScore
4.70
自引率
8.30%
发文量
2699
审稿时长
19.64 days
期刊介绍: Diagnostics (ISSN 2075-4418) is an international scholarly open access journal on medical diagnostics. It publishes original research articles, reviews, communications and short notes on the research and development of medical diagnostics. There is no restriction on the length of the papers. Our aim is to encourage scientists to publish their experimental and theoretical research in as much detail as possible. Full experimental and/or methodological details must be provided for research articles.
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