Sickle cell disease
Sickle cell disease
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DOI：
10.1038/nrdp.2018.10
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发表时间：
2018-03-15
影响因子：
81.5
通讯作者：
Vichinsky, Elliott P.
中科院分区：
文献类型：
--
作者：
Kato, Gregory J.;Piel, Frederic B.;Vichinsky, Elliott P.
镰状细胞病(SCD)是一组由编码血红蛋白β亚单位的HBB突变引起的遗传性疾病。据估计，全球每年的新生儿发病率在30万至40万之间，其中大部分在撒哈拉以南非洲。包括突变的镰刀状β-珠蛋白亚基的血红蛋白分子可以聚合；主要含有血红蛋白聚合物的红细胞呈镰状，容易溶血。导致SCD表型的其他病理生理机制是血管闭塞和免疫系统的激活。SCD具有显著的表型复杂性。常见的急性并发症有急性疼痛、急性胸部综合征和中风；慢性并发症(包括慢性肾脏疾病)可损害所有器官。羟基尿素、输血和造血干细胞移植可以减轻疾病的严重程度。早期诊断对提高存活率至关重要，一些国家已经实施了普遍的新生儿筛查方案，但在低收入、高负担的环境中具有挑战性。
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit beta. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle beta-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system. SCD is characterized by a remarkable phenotypic complexity. Common acute complications are acute pain events, acute chest syndrome and stroke; chronic complications (including chronic kidney disease) can damage all organs. Hydroxycarbamide, blood transfusions and haematopoietic stem cell transplantation can reduce the severity of the disease. Early diagnosis is crucial to improve survival, and universal newborn screening programmes have been implemented in some countries but are challenging in low-income, high-burden settings.