新生儿遗传性球形红细胞增多症ANK1基因新发突变1例报告

A case report of neonatal hereditary spherocytosis with a new mutation in the ANK1 gene

分析1例新生儿遗传性球形红细胞增多症(hereditary spherocytosis,HS)的临床特点、诊疗流程及基因检测结果。该患儿皮肤黄染,外周血涂片球形红细胞比例达30%。基因测序患儿ANK1基因有1个杂合突变。母亲同样位点突变,且有类似病史。该基因突变位点未被人类基因突变数据库(Human Genetic Mutation Database,HGMD)收录,无文献报道,为新发突变。HS临床表型无特异性,在新生儿早期主要表现为新生儿高未结合胆红素血症,出生后1周左右出现贫血。基因检测是发现Coombs阴性的新生儿和婴儿溶血性贫血病因的重要手段。

To analyze the clinical features,diagnosis and treatment process,and genetic testing results of a case diagnosed with hereditary spherocytosis(HS)in the neonatal period.The case was jaundice and spherical red blood cells were accounting for 30%on peripheral blood smear.Gene sequencing analysis showed that there was one heterozygous mutation in the ANK1 gene.The same site mutation was detected in her mother,and who had a similar medical history.The gene mutation site was not included in the Human Gene Mutation Database(HGMD)and had not been reported in the literature,and it was a new mutation.The clinical phenotype of HS was non-specific,and it was mainly manifested as neonatal hyperunconjugated bilirubinemia in the early neonatal period,and anemia appears about 1 week after birth.Genetic testing was an important means of detecting the cause of hemolytic anemia in Coombs-negative neonates and infants.