Genotype Analysis of Pregnant Women with α- and β- Thalassemia in Fuzhou Area of Fujian Province in China / 中国实验血液学杂志

ABSTRACT

OBJECTIVE@#To analyze the genotype of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China.@*METHODS@#Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization.@*RESULTS@#412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as β-thalassemia (31.2%); 32 cases were diagnosed as α and β-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were --/αα, α/αα, -α/αα and αα/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in β- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and β-composite thalassemia, whose major genotypes were --/αα composited CD41-42/N, -α/αα composited CD41-42/N, --/αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively.@*CONCLUSION@#The major genotypes of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China are --/αα, α/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.