Prevalence of Thalassemia-carrier of Couples at Childbearing Age and Risk Prediction of Thalassemia

Abstract Background: Thalassemia is highly prevalent hematologic disease in Guizhou, China. This study aims to determine the epidemiological characteristics of thalassemia for couples at childbearing age in this subpopulation. Results: There were 4481 couples at childbearing age recruited for thalassemia-carrier screening through both traditional hematological tests and next-generation sequencing (NGS). Of them, 1314 (14.66%) thalassemia-carriers were identified, including 857 (9.76%) α-thalassemia, 391 (4.36%) β-thalassemia, and 48 (0.54%) composite α and β-thalassemia. Of them, 38 couples were high-risk thalassemia carriers. In addition, 12 a-globin gene alterations and 16 b-globin mutations were detected including four novel thalassemia mutations. SEA is the most common α-thalassemia genotype (26.86%), CD41-42 is the most prevalent β-thalassemia genotype (36.57%); the αα/-α 3.7 + CD41-42 is the most frequent composite α and β-thalassemia genotype (18.75%). Ethnically, the Zhuang has the highest rate of thalassemia-gene carriers among the ethnic groups. Geographically, Qiannan presented the highest rate of thalassemia-gene carrier. Conclusion: This result enriched the genetic map of thalassemia and provided thalassemia genetic counseling and fertility-guidance for thalassemia-carriers in Guizhou, China. The NGS is so far the most accurate method for population thalassemia screening.