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

• DOI: 10.3109/03630260903343574
• Publication Date: 2009-12-04T03:08:07Z
• Authors: Paolo Mereu; Chiara Multineddu; Mara Sannai; Monica Pirastru; Laura Manca; Bruno Masala
• Keywords: 0303 health sciences; Hemoglobins, Abnormal; DNA Mutational Analysis; Infant, Newborn; Hemoglobinopathies; 03 medical and health sciences; Italy; Mutation; Humans; gamma-Globins; DNA sequencing; Gγ chain variant; Aγchain variant; Brazil; Fetal Hemoglobin

Two healthy newborns, heterozygous for two different gamma-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 gamma-globin genes. One of the two abnormalities was a novel (A)gammachain variant and the tetramer was named Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser]. The other was a (G)gamma chain variant, Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr], already described in a Brazilian baby of African ancestry. No functional studies could be performed.