Zhonghua yi xue za zhi
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Zhonghua yi xue za zhi · Aug 1994
[Molecular screening and prenatal diagnosis of the deletional alpha-thalassemia by polymerase chain reaction amplification].
For the genetic counselling, 8,432 blood samples from Chinese couples were screened for detecting alpha-thalassemia in Guangzhou city. The positive diagnosis of 646 (7.66%) alpha-thalassemia patients was made. ⋯ This mutation was not found in the remaining one with alpha-thalassemia compound Hb Q. We also used this assay to analyse DNA samples from cord blood in 6 pregnancies at risk of Bart's hydrops fetalis, in 1 at risk of Hb H disease for prenatal diagnosis.