Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea.
Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea.
Ann Clin Lab Sci. 2021 Jan;51(1):136-139.
Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes were frequently observed on peripheral blood smear, but the erythrocyte osmotic fragility test result was normal. Targeted next-generation sequencing (NGS) revealed the patient was heterozygous for a novel frameshift mutation, c.191_194del (p.Leu64Argfs*7), in exon 3 of gene. Family study was performed by direct sequencing, and neither of her parents carried this mutation. The patient also harbored the *6 allele. To the best of our knowledge, this mutation identified by targeted NGS has not been reported previously.
遗传性球形红细胞增多症（HS）是一种先天性红细胞膜疾病，其特征为溶血性贫血、间歇性黄疸和脾肿大。在新生儿中，由于缺乏家族史，HS 的诊断可能较为困难。本文描述了一名韩国新生儿 HS 的临床和分子遗传学发现。一名一个月大的女婴因严重贫血和黄疸就诊。外周血涂片经常观察到球形红细胞，但红细胞渗透脆性试验结果正常。靶向下一代测序（NGS）显示患者在 基因的外显子 3 中杂合存在一个新型移码突变 c.191_194del（p.Leu64Argfs*7）。通过直接测序进行了家系研究，其父母均未携带该突变。该患者还携带 *6 等位基因。据我们所知，通过靶向 NGS 鉴定的这种 突变此前尚未有报道。
