Kanno Hitoshi, Ogura Hiromi
Dept. Transfusion Medicine and Cell Processing, Faculty of Medicine, Tokyo Women's Medical University.
Rinsho Ketsueki. 2021;62(5):472-479. doi: 10.11406/rinketsu.62.472.
Congenital hemolytic anemia (CHA) develops not only in the neonatal period but in all age groups, from fetuses to adults. In this study, we summarized the differential diagnoses of hemolytic anemia cases with undetermined etiology in the past 5 years. In total, 319 patients with CHA were included. For cases in which autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria were ruled out, we performed CHA-related laboratory tests. For cases in which a definitive diagnosis of membrane and enzyme abnormalities was required, and for cases in which it was difficult to diagnose the disease type based on biochemical and cell biological tests, we used a gene panel analyzing 68 hemolytic anemia-related genes. The incidence of dehydrated hereditary stomatocytosis (DHSt) has increased since definitive diagnosis by genetic analysis became available. DHSt is now the second most frequent type of CHA. Target-captured sequencing (TCS) analysis is useful for the diagnosis of DHSt, but is a time-consuming and labor-intensive process involving the analysis of a large amount of data generated by the next-generation sequencer. In order to overcome this limitation, simpler and faster laboratory testing should be developed.
先天性溶血性贫血（CHA）不仅在新生儿期发病，在从胎儿到成人的所有年龄组中均可发病。在本研究中，我们总结了过去5年病因未明的溶血性贫血病例的鉴别诊断情况。共纳入319例CHA患者。对于排除了自身免疫性溶血性贫血和阵发性睡眠性血红蛋白尿的病例，我们进行了与CHA相关的实验室检查。对于需要明确诊断膜和酶异常的病例，以及基于生化和细胞生物学检查难以诊断疾病类型的病例，我们使用了一个分析68个与溶血性贫血相关基因的基因panel。自从通过基因分析能够进行明确诊断以来，脱水遗传性口形红细胞增多症（DHSt）的发病率有所上升。DHSt现在是CHA的第二常见类型。靶向捕获测序（TCS）分析对DHSt的诊断有用，但这是一个耗时且劳动强度大的过程，涉及分析下一代测序仪产生的大量数据。为了克服这一局限性，应开发更简单、更快的实验室检测方法。
