遗传性球形红细胞增多症诊治进展

Progress of diagnosis and treatment of hereditary spheocytosis

遗传性球形红细胞增多症(HS)是一种常见的膜蛋白缺陷性疾病。可有不同程度贫血、黄疸、脾肿大。非典型患者表现轻重不一,症状不典型,常规实验室检查不易发现;因膜蛋白缺陷类型、遗传方式异质性明显,易误诊、漏诊。脾切除是目前控制贫血的最有效治疗方法。

The spherocytosis(HS)is a common diseases with red cell membrane defects,which has the symptomes including different degree of anemia,jaundice,splenomegaly.The patients with atypical symptoms have different patterns of manifestation,which are not easily detected by routine laboratory tests,moreover,the membrane protein detect types and genetic heterogeneity are obvuos,thus,HS is easily misdiagnosed and missed diagnosed.And splenectomy is the most effective treatment method to control anemia.