Article
Use of an automated pyrosequencing technique for confirmation of sickle cell disease.
PloS one - 1 Jan 2019
de Martino Camila Cruz, Alencar Cecilia Salete, Loureiro Paula, Carneiro-Proietti Anna Barbara de Freitas, Máximo Claudia de Alvarenga, Mota Rosimere Afonso, Rodrigues Daniela Oliveira Werneck, Gaburo Junior Nelson, Kelly Shannon, Sabino Ester Cerdeira
Abstract excerpt
BACKGROUND: The diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-scale newborn screening in many countries. These tests however may not easily differentiate Sβ0 thalassemia from SS or identify other hemoglobin...
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