Article
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Hemoglobin - 1 Jan 2016
Henderson Shirley J, Timbs Adele T, McCarthy Janice, Gallienne Alice E, Proven Melanie, Rugless Michelle J, Lopez Herminio, Eglinton Jennifer, Dziedzic Dariusz, Beardsall Matthew, Khalil Mohamed S M, Old John M
Abstract excerpt
We review and report here the genotypes and phenotypes of 60 novel thalassemia and abnormal hemoglobin (Hb) mutations discovered following the adoption of routine DNA sequencing of both α- and β-globin genes for all UK hemoglobinopathy samples referred for molecular investigation. This screening strategy over the last 10 years has revealed a total of 11 new β chain variants, 15 α chain variants, 19 β-thalassemia...
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