Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi.
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.
J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e250-e254. doi: 10.1097/MPH.0000000000001796.
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the αLELY allele in SPTA1. In addition, the proband presented coexisting Gilbert syndrome as determined by homozygous mutation of UGT1A1. Investigation of 13 relatives and his sibling revealed that only his sibling showed the same phenotype and genotype as the proband. This is the first report of molecular confirmation of coexisting hereditary pyropoikilocytosis and Gilbert syndrome and a novel mutation in SPTA1.
遗传性热不稳定血影细胞综合征是遗传性椭圆形红细胞增多症的一个亚型，其病因是 SPTA1、SPTB 和 EPB41 的双等位基因突变。作者报告了一例新生儿黄疸和溶血性贫血的先证者，其血片中可见形态异常的红细胞。靶向下一代测序发现 SPTA1 的 αLELY 等位基因上存在 Q267del 转位。此外，先证者还患有 Gilbert 综合征，这是由 UGT1A1 纯合突变所决定的。对 13 名亲属及其兄弟姐妹的调查显示，只有他的兄弟姐妹表现出与先证者相同的表型和基因型。这是首例同时存在遗传性热不稳定血影细胞综合征和 Gilbert 综合征以及 SPTA1 新突变的分子确诊病例。
