目的　探讨河南地区β地中海贫血患儿的临床特点。方法　回顾分析11例河南籍β地中海贫血患儿及家系 成员的临床资料。结果　11例患儿中，HbE病2例，轻型β地中海贫血合并遗传性椭圆形红细胞增多症1例，轻型β地中 海贫血复合缺铁性贫血1例，其余7例单纯为轻型β地中海贫血。11例患儿血红蛋白电泳均有异常，其中HbA2和/或HbF 增高9例，出现HbE条带2例。共检测到3种β基因突变类型，分别为IVS-II-654（C>T）突变7例，CD17（A>T）和CD26（G>A） 突变各2例。11例患儿家系中， 6例祖籍河南， 5例父母中一方来自地中海贫血高发区。结论　β地中海贫血是一种常见的 单基因遗传病，河南地区存在β基因突变。家系调查、红细胞参数、血红蛋白电泳等有助于诊断和发现新病例。

Objective　To explore the clinical characteristics of β-thalassemia in children in Henan. Method　The clinical data of 11 children with β-thalassemia in Henan and their family members were retrospectively analyzed. Results　In the 11 cases, there were 2 cases of HbE disease, 1 case of β-thalassemia minor combined with hereditary elliptocytosis, 1 case of β-thalassemia minor accompanied with iron deficiency anemia, and 7 cases of β-thalassemia minor. Hemoglobin electrophoresis was abnormal in all 11 children, including HbA2 and/or HbF elevation in 9 cases and HbE bands in 2 cases. A total of 3 types of beta gene mutations were detected, including 7 cases of IVS-II-654 (C>T) mutation, 2 cases of CD17 (A>T) and 2 cases of CD26 (G>A) mutations. In the 11 children, there were 6 children whose ancestral home was Henan and either of the parents of other 5 children was from the high incidence area of thalassemia. Conclusion　The β- thalassemia is a common single-gene hereditary disease, and beta gene mutations exist in Henan. Pedigree investigation, hemoglobin electrophoresis and hematology parameters contribute to diagnose and discover new cases.