Objective: To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia.
Methods: A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB).
Results: A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found.
Conclusion: The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.
题目: 中国广东省广州市花都区α-地中海贫血融合基因及表型分析.
目的: 了解中国广东省广州市花都区人群α-地中海贫血融合基因的携带率、表型和基因型特征，为地中海贫血防控工作提供数据参考.
方法: 回顾性分析2019年7月至2020年11月广州市花都区妇幼保健院进行地中海贫血筛查的10 769例样本，进行血细胞分析、血红蛋白电泳，采用跨越断裂点PCR法（gap-PCR）、PCR-反向斑点杂交法（PCR-RDB）检测地中海贫血基因.
结果: 在广州市花都区10 769例样本中检出9例α-地中海贫血融合基因，检出率为0.08%。7例为融合基因杂合子，1例为融合基因复合Hb G-Honolulu，1例为融合基因复合Hb QS。4例样本血细胞参数MCV结果在正常参考范围内，1例样本血红蛋白电泳Hb A2值降低，其他未见异常.
结论: 广州市花都区α-地中海贫血融合基因携带率较高，以杂合子常见，目前的筛查技术容易漏诊.
Keywords: Huadu district; fusion gene; thalassemia.