Article
Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis.
American journal of hematology - 1 Nov 2003
Waye John S, Patterson Margaret, Walker Lynda, Eng Barry, Nakamura Lisa M, Lafferty John D, Yong Siu-Li, Wu John K, Chui David H K, Yong Sui-Li
Abstract excerpt
We describe a complicated genetic counseling and prenatal diagnostic case involving an East Indian couple that had lost two consecutive pregnancies. Hemoglobinopathy screening was conducted to investigate the possibility of Hb Bart's hydrops fetalis or Hb H hydrops fetalis. The initial work-up indicated that alpha-thalassemia was not a contributing factor, with both parents being carriers of single gene deletions...
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