[471例α地中海贫血患儿的基因缺失谱]

[Spectrum of gene deletion in 471 children with α-thalassemia].

作者信息

Lin Ye-Hui, Fan Lian, Zhang Zhang, Pan Zhi-Wei, Song Chun-Lin

机构信息

Department of Pediatrics, Southern Medical University, Foshan, Guangdong, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2012 Apr;14(4):264-6.

PMID:22537953

Abstract

OBJECTIVE

To study the distribution of common α-thalassemia gene deletion in children.

METHODS

Blood cell analysis was performed on children who visited the clinic of the Foshan Women and Children's Hospital. Blood samples (2 mL, EDTA anticoagulant) was collected from children with MCV<82 fl for analysis of α-thalassemia gene using the GAP-PCR method.

RESULTS

MCV<82 fl was found in 1341 children. Of the 1341 children, 471 (35.1%) were diagnosed with α-thalassemia. The prevalence of α-thalassemia increased with increasing age. --SEA was a major type of α-thalassemia gene deletion (75.3%), followed by -a3.7 (17.0%) and -a4.2 (7.7%) in the 471 patients. The top three genotypes were --SEA/aa (73.2%), aa/-a3.7 (12.5%) and --SEA/-a3.7 (5.5%).

CONCLUSIONS

Genetic testing is necessary for the diagnosis of α-thalassemia in children with MCV<82 fl. --SEA is a common type of α-thalassemia gene deletion, and -SEA/aa is a common gene type of α-thalassemia in the subjects of this study.

摘要

目的

研究儿童常见α地中海贫血基因缺失的分布情况。

方法

对到佛山市妇幼保健院门诊就诊的儿童进行血细胞分析。采集MCV<82 fl儿童的血样（2 mL，EDTA抗凝），采用缺口聚合酶链反应（GAP-PCR）法分析α地中海贫血基因。

结果

1341例儿童MCV<82 fl。在这1341例儿童中，471例（35.1%）被诊断为α地中海贫血。α地中海贫血的患病率随年龄增长而增加。在471例患者中，--SEA是α地中海贫血基因缺失的主要类型（75.3%），其次是-a3.7（17.0%）和-a4.2（7.7%）。前三位的基因型是--SEA/aa（73.2%）、aa/-a3.7（12.5%）和--SEA/-a3.7（5.5%）。