Two New Hemoglobin Variants: Hb Brem-Sur-Mer [β9(A6)Ser^→Tyr] and Hb Passy [α81(F2)Ser^→Pro (α2)]

Abstract

Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT-->TAT); beta9(A6)Ser-->Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC-->CCC); alpha81(F2)Ser-->Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).

Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing

“…Evolutionary analysis of Ser81 revealed that it is comparatively conserved in nature. Three variants have already been described at CD 81 of the α2globin gene: Hemoglobin Nigeria (Honig et al, 1980), Hb Wolverhampton (Henderson et al, 2016), and Hb Passy (Lacan et al, 2005). Hemoglobin Nigeria was described in 1966 in Africa and Hb Passy was described in 2005.…”