首页|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

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

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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.
Adolescent hereditary spherocytosis with acute intravascular hemolysis as the first manifestation
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.Con-clusion 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.

Intravascular hemolysisFirst manifestationAdolescentHereditary spherocytosis

熊婷、陈峰、叶瑶、钟龙青、徐忠金、吴崇军

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江西省儿童医院内分泌遗传代谢科

江西省儿童医院血液二科

江西省儿童医院检验科,南昌 330000

血管内溶血 首发表现 青少年 遗传性球形红细胞增多症

江西省教育厅科学技术研究项目重点项目江西省卫生健康委员会科技计划项目

GJJ2203510202211164

2024

江西医药
江西省医学会

江西医药

影响因子:0.793
ISSN:1006-2238
年,卷(期):2024.59(4)