Two healthy newborns, heterozygous for two different Y-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 Y-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.
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|Titolo:||Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [Aγ119(GH2)Gly→Ser, GGC→AGC] and the Hb F-Paulinia [Gγ80(EF4)Asp→Tyr, GAT→ TAT] already described in the Brazilian population|
|Autori interni:||PIRASTRU, Monica|
|Data di pubblicazione:||2009|
|Appare nelle tipologie:||1.1 Articolo in rivista|