Abstract | OBJECTIVE: To investigate the incidence and the gene mutation frequencies and patterns of α- thalassemia in preschool children in Chongqing city. METHODS: Cluster random sampling was used. A total of 1057 preschool children in three areas of Chongqing were screened by using routine blood test and hemoglobin electrophoresis analysis. Molecular analysis carried out for all the samples. RESULTS: Of the 1057 samples, 55 cases were diagnosed as being carriers of α- thalassemia, which included 80 allele genes. Therefore, the frequency of α- thalassemia carriers in Chongqing was 5.20%. Of the 55 α- thalassemia carriers, five different deletions of α- thalassemia were identified, the three most common deletion types and proportions were 54.55% for the -α(3.7) deletion, 18.18% for --(SEA) deletion, and 9.08% for the -α(4.2) deletion, respectively; eight types of nondeletion defects were determined, containing one case of Hb Quong Sze and seven novel mutations of a- globin gene. Furthermore, 24 cases of α-Triplication were detected with the α-Triplication carrier rate of 2.55%. In addition, in this study we also found two cases of abnormal hemoglobin disorders occurred on α- globin gene, Hb J-Wenchang-Wuming and Hb Arya. Hb Arya was characterized in the Chinese population for the first time confirmed by literature retrieval. CONCLUSION: In this study, we have clarified the carrier frequency and molecular spectrum of α- thalassemia in Chongqing, and we first reported the carrier incidence of α-Triplication in Chongqing. The materials obtained from this study would be of valuable reference for genetic counseling and the examination instruction of children in this area.
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Authors | Jie Yu, Ying Xian, Xiuyun Yao, Jianwen Xiao, Haiyan Liu, Shiping Chen, Lei Zhang, Yumei Zhang, Zhenzi Qin, Rong Fan, Xiaoyun Zhong |
Journal | Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
(Zhonghua Xue Ye Xue Za Zhi)
Vol. 35
Issue 5
Pg. 419-23
(May 2014)
ISSN: 0253-2727 [Print] China |
PMID | 24857212
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Asian People
- Child, Preschool
- China
(epidemiology)
- Humans
- Incidence
- Mutation
- Prevalence
- alpha-Globins
(metabolism)
- alpha-Thalassemia
(epidemiology, metabolism)
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