Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.
Noraesah MahmudMassimo MaffeiMassimo MogniGian Luca ForniValeria Maria PintoGiuseppina BarberioSilvana UngariAntonella MaffèCristina CurcioFrancesco ZanolliRaffaella PaventaMariarosa CartaAlberta CaleffiMariella MercadantiSauro MaoggiGiovanni IvaldiDomenico A CovielloPublished in: Genes (2021)
The knowledge recognition of the delta variant on Hb analysis and accurate molecular characterization is crucial to provide an accurate definitive thalassemia diagnosis, particularly in young subjects who would like to ask for a prenatal diagnosis or preimplantation genetic diagnosis.