Two Abnormal Fetal Hemoglobins Found in the Sardinian Population: The New Hb F-Osilo [^Aγ119(GH2)Gly→Ser, GGC > AGC] and Hb F-Paulinia [^Gγ80(EF4)Asp→Tyr, GAT > TAT] Already Described In The Brazilian Population

Abstract

Two healthy newborns, heterozygous for two different γ-globin chain mutations, were observed during an electrophoretic screening for hemoglobinopathies in Sassari, North Sardinia (Italy). The variants were characterized by reversed phase high performance liquid chromatography (HPLC) and sequencing of amplified γ-globin genes. One of the two abnormalities was a novel ^Aγchain variant and the tetramer was named Hb F-Osilo [^Aγ119(GH2)Gly→Ser]. The other was a ^Gγ chain variant, Hb F-Paulinia [^Gγ80(EF4)Asp→Tyr], already described in a Brazilian baby of African ancestry. No functional studies could be performed.

Keywords:

• Newborn screening
• ^Aγchain variant
• ^Gγ chain variant
• isoelectric focusing (IEF)
• High performance liquid chromatography (HPLC)
• DNA sequencing

ACKNOWLEDGMENTS

This study was supported by grants from Fondazione Banco di Sardegna and Università degli Studi di Sassari (FAR funds).

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.