Ruff Christer, Zerweck Leonie, Bevot Andrea, Remppis Jonathan, Bender Benjamin, Ernemann Ulrike, Gohla Georg
Department of Diagnostic and Interventional Neuroradiology, Eberhard Karls-University Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany.
Department of Pediatric Neurology, University Hospital Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany.
Diagnostics (Basel). 2025 Jun 10;15(12):1470. doi: 10.3390/diagnostics15121470.
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 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.
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,即Hb S。SCD的特征是常染色体隐性遗传模式,这意味着孩子若要表现出这种病症,必须从父母双方遗传到一个Hb S等位基因(HbSS),或者一个Hb S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-地中海贫血)。据观察,镰状细胞性状(HbAS)单拷贝的(杂合子)携带者通常是健康的,甚至能获得对严重疟疾的部分保护。“严重和复杂疟疾”这一术语是根据存在寄生虫血症时的特定临床和实验室特征来界定的。非洲儿童中严重疟疾的常见形式包括脑型疟疾、呼吸窘迫和严重疟疾贫血。脑型疟疾是疟疾感染的一种罕见并发症,死亡率很高。