Basran Raveen K, Patterson Margie, Walker Lynda, Nakamura Lisa M, Eng Barry, Chui David H K, Waye John S
Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.
Ann N Y Acad Sci. 2005;1054:507-10. doi: 10.1196/annals.1345.052.
In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thalassemia (Hb Bart's hydrops fetalis), and/or Hb H disease, and 185 (28%) for various sickling disorders (Hb SS, Hb SC, Hb S/beta-thalassemia). Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario.
1989年，安大略省设立了一个分子诊断实验室，用于血红蛋白病的携带者检测和产前诊断。在过去15年里，该实验室为672例有严重血红蛋白病风险的妊娠提供了产前诊断：276例（41%）为纯合子β地中海贫血或血红蛋白（Hb）E/β地中海贫血，211例（31%）为纯合子α0地中海贫血（巴氏水肿胎儿血红蛋白）和/或Hb H病，185例（28%）为各种镰状细胞病（Hb SS、Hb SC、Hb S/β地中海贫血）。尽管有携带者筛查、遗传咨询和产前诊断服务，但安大略省血红蛋白病的总体发病率仅略有下降。
