以急性血管内溶血为首发表现的青少年遗传性球形红细胞增多症

Adolescent hereditary spherocytosis with acute intravascular hemolysis as the first manifestation

目的 提高临床医生对表现不典型、缺乏明确的家族遗传史HS患者的认识。方法 回顾一例以急性血管内溶血为首发表现的青少年HS患儿的临床资料并进行分析。结果 患儿,男,13岁3月,以急性血管内溶血为首发表现,早期诊断不明确,后经基因检测最终确诊为球形红细胞增多症2型。结论 部分HS表现不典型、缺乏明确的家族遗传史,在诊断不确定或疑似HS的情况下,需进行基因检测。

Objective To improve clinicians' understanding of patients with atypical and lacking a clear family genetic history of HS.Methods The clinical data of a case of adolescent HS children with acute intravascular hemolysis as the first manifestation were reviewed and analyzed.Results The patient,male,13 years and 3 months old,presented with acute intravascular hemolysis as the first manifestation.The early diagnosis was not clear,and finally confirmed as spherocytosis type 2 by genetic testing.Conclusion Some HS manifestations are atypical and lack a clear family history,and genetic testing is required when the diagnosis is uncertain or suspected of HS.