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 --SEA/αα, α3.7/αα, -α4.2/αα and αQSα/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 --SEA/αα composited CD41-42/N, -α3.7/αα composited CD41-42/N, --SEA/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 --SEA/αα, α3.7/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.
题目: 中国福建省福州地区地中海贫血孕妇基因类型分析.
目的: 研究中国福建省福州地区地中海贫血孕妇基因类型.
方法: 对孕妇进行血常规检测或血红蛋白电泳检测，阳性者采用跨跃断裂点PCR技术及PCR-反向点杂交法进行α地中海贫血基因检测，采用PCR-反向点杂交法进行β地中海贫血基因检测.
结果: 645例确诊为地中海贫血孕妇中，412例为α地中海贫血（63.9%）；201例为β地中海贫血（31.2%）；32例α/β复合地中海贫血（4.9%）。α地中海贫血基因检测中共检测出12种基因型，--SEA/αα最为常见（265例，64.32%），其后依次为α3.7/αα 83例（20.14%），-α4.2/αα 32例（7.77%），αQSα/αα 8例（1.94%）；β地中海贫血基因检测中共检测出10种基因型，CD41-42/N最为常见（62例，30.84%），其后依次为CD17/N 56例（27.86%），IVS-II-654/N 32例（15.92%），-28/N 21例（10.45%）；α/β复合地中海贫血基因检测中共检测出9种复合基因型，--SEA/αα复合CD41-42/N最为常见（6例，18.75%），其后依次为-α3.7/αα复合CD41-42/N 5例（15.62%），--SEA/αα复合CD17/N 5例（15.62%）.
结论: 中国福建省福州地区孕妇α、β地中海贫血基因型主要为--SEA/αα、α3.7/αα、CD41-42/N及CD17/N等。对福建省福州地区孕妇应加强地中海贫血筛查及产前基因诊断.