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ORIGINAL ARTICLE
Year : 2019  |  Volume : 12  |  Issue : 12  |  Page : 537-544

Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China


1 Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, the First Affiliated Hospital of Hainan Medical University; Hainan Provincial Clinical Research Center for Thalassemia, the First Affiliated Hospital of Hainan Medical University; Prenatal Diagnosis Center, the First Affiliated Hospital of Hainan Medical University; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan 571199, China; Texas Heart Institute, 6770 Bertner Avenue, MC 2-255, Houston, TX 77030, USA

Correspondence Address:
Qi Li
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Haikou 570102, Hainan, China

Yan-lin Ma
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Haikou 570102, Hainan, China

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Source of Support: 8106001 Department (No. YJJC20120007, 2012-GH009, ZDZX2013003 and KJHZ2014-11), Conflict of Interest: None


DOI: 10.4103/1995-7645.272483

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Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China. Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α- and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42 (–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.


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