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儿童 β 地中海贫血 11 例家系分析

  • 余勤勤 ,
  •  赵晓明 ,
  •  盛光耀
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  • 郑州大学第一附属医院儿科(河南郑州 450052)

收稿日期: 2018-07-15

  网络出版日期: 2018-07-15

Familial analysis of β-thalassemia in 11 children

  • YU Qinqin ,
  • ZHAO Xiaoming ,
  • SHENG Guangyao
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  • Department of Pediatrics of the First Hospital Affiliated to Zhengzhou University, Zhengzhou 450052, Henan, China

Received date: 2018-07-15

  Online published: 2018-07-15

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。

本文引用格式

余勤勤 ,  赵晓明 ,  盛光耀 . 儿童 β 地中海贫血 11 例家系分析[J]. 临床儿科杂志, 2018 , 36(7) : 517 . DOI: 10.3969/j.issn.1000-3606.2018.07.010

Abstract

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.
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