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Description of Three New α Variants and Four New β Variants: Hb Montluel [ α 110(G17)Ala → Val; HBA1 : c.332C > T], Hb Cap d’Agde [ α 131(H14)Ser → Cys; HBA2 : c.395C > G] and Hb Corsica [ α 100(G7)Leu → Pro; HBA1 : 302T > C]; Hb Nîmes [ β 104(G6)Arg → Gly; HBB : c.313A > G], Hb Saint Marcellin [ β 112(G14)Cys → Gly; HBB : c.337T > G], Hb Saint Chamond [ β 80(EF4)Asn → 0; HBB : c.241_243delAAC] and Hb Dompierre [ β 29(B11)Gly → Arg; HBB : c.88G > C]

Archive ouverte | Renoux, Céline | CCSD

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Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening

Archive ouverte | Renoux, Céline | CCSD

International audience. In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. ...

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β -Thalassemia Mutation [ HBB : c.265_266del; p.Leu89Glufs*2]

Archive ouverte | Gueye Tall, Fatou | CCSD

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