Three New α-Globin Variants: Hb Itapira [α30(B11)Glu→Val (α1)], Hb Bom Jesus Da Lapa [α30(B11)Glu→Ala (α1)] and Hb Boa Esperança [α16(A14)Lys→Thr (α2)]

Abstract

Three novel α-globin variants were found during a screening program for hemoglobinopathies in blood donors at the UNICAMP Hematology and Hemotherapy Center, Campinas, State of São Paulo, Southeastern Brazil. They were named for the town of origin of the carrier as Hb Itapira [α30(B11)Glu→Val], Hb Bom Jesus da Lapa [α30(B11)Glu→Ala] and Hb Boa Esperança [α16(A14)Lys→Thr]. Hb Itapira, like Hb Bom Jesus da Lapa, shows an electrophoretic mobility similar to that of Hb S [β6(A3)Glu→Val, GAG→GTG] at alkaline pH; it is associated with a triplicate α-globin allele (ααα^{anti 3.7}) and corresponds to only 5.5% of the total hemoglobin (Hb). Hb Boa Esperança, found in two different individuals, moves faster than Hb A and exhibits an abnormal functional performance.

Keywords:

• Hereditary hemoglobinopathies
• α-Globin variants
• Hb Itapira
• Hb Bom Jesus da Lapa
• Hb Boa Esperança
• Brazilian population