儿童β地中海贫血11例家系分析  

Familial analysis of β-thalassemia in 11 children

作　　者：余勤勤 赵晓明[1] 盛光耀[1] YU Qinqin;ZHAO Xiaoming;SHENG Guangyao(Department of Pediatrics of the First Hospital Affiliated to Zhengzhou University,Zhengzhou 450052,Henan,China)

机构地区：[1]郑州大学第一附属医院儿科,河南郑州450052

出　　处：《临床儿科杂志》2018年第7期517-519,共3页Journal of Clinical Pediatrics

摘　　要：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 ofβ-thalassemia in children in Henan.Method The clinical data of 11 children withβ-thalassemia in Henan and their family members were retrospectively analyzed.Results In the 11 cases,there were 2 cases of HbE disease,1 case ofβ-thalassemia minor combined with hereditary elliptocytosis,1 case ofβ-thalassemia minor accompanied with iron deficiency anemia,and 7 cases ofβ-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 Theβ-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.

关 键 词：Β地中海贫血 家系分析 儿童 

分 类 号：R725.5[医药卫生—儿科]