Article
The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.
International journal of hematology - 1 Jun 2017
Uaprasert Noppacharn, Settapiboon Rung, Amornsiriwat Supaporn, Sutcharitchan Pranee, Rojnuckarin Ponlapat
Abstract excerpt
No well-defined phenotypes that distinguish between unknown α- and β-globin mutations have been reported to date. Direct DNA sequencing of α-globin genes can be technically challenging, as α1- and α2-globin genes are nearly indistinguishable. To detect hemoglobin variants (HbXs) on Hb analysis, the entire β- and α-globin genes were directly sequenced using a newly developed sequencing protocol for α-globin genes....
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