Will Ashley, Henderson Cheryl A, Jnah Amy J, Newberry Desi
Neonatal Netw. 2017 Sep 1;36(5):280-288. doi: 10.1891/0730-0832.36.5.280.
Hereditary spherocytosis (HS) is the third most common yet most frequently underrecognized, congenitally acquired hemolytic disease of the neonate. Hereditary spherocytosis is caused by a defect of one or more erythrocyte membrane proteins, which leads to an increased rate of destruction of circulating red blood cells. The HS spectrum of symptoms is varied from asymptomatic to intrauterine hydrops. Diagnostic tests range from a complete blood count (CBC) analysis to deoxyribonucleic acid (DNA) sequencing. Management in the neonatal period focuses primarily on associated comorbidities, including the prevention of severe hyperbilirubinemia and anemia. Life span implications of HS include hemolysis, jaundice, anemia, splenomegaly, and periodic gallstones. Early identification and diagnosis of HS is essential to ensure proper monitoring and medical management throughout infancy, childhood, and adulthood.
遗传性球形红细胞增多症（HS）是新生儿中第三常见但最常被漏诊的先天性获得性溶血性疾病。遗传性球形红细胞增多症由一种或多种红细胞膜蛋白缺陷引起，这会导致循环红细胞的破坏率增加。HS的症状范围从无症状到宫内水肿不等。诊断测试从全血细胞计数（CBC）分析到脱氧核糖核酸（DNA）测序。新生儿期的管理主要集中在相关合并症上，包括预防严重高胆红素血症和贫血。HS对寿命的影响包括溶血、黄疸、贫血、脾肿大和周期性胆结石。早期识别和诊断HS对于确保在婴儿期、儿童期和成年期进行适当的监测和医疗管理至关重要。
