Article
Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.
Genes - 19 Nov 2021
Mahmud Noraesah, Maffei Massimo, Mogni Massimo, Forni Gian Luca, Pinto Valeria Maria, Barberio Giuseppina, Ungari Silvana, Maffè Antonella, Curcio Cristina, Zanolli Francesco, Paventa Raffaella, Carta Mariarosa, Caleffi Alberta, Mercadanti Mariella, Maoggi Sauro, Ivaldi Giovanni, Coviello Domenico
Abstract excerpt
BACKGROUND: Hemoglobin A (Hb A) (α2β2) in the normal adult subject constitutes 96-98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A2 (Hb A2) (α2δ2), the normal reference values are between 2.0 and 3.3%. It is important to evaluate the presence of possible delta gene mutations in a population at high risk for globin gene defects in order to correctly diagnose the β-thalassemia carrier....
Topics
- Adult
- Aged, 80 and over
- Child
- Female
- Humans
- Male
- Middle Aged
- Mutation
- beta-Thalassemia
- delta-Globins