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.
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 / Mereu, Paolo; Multineddu, C; Sannai, M; Pirastru, Monica; Manca, Laura; Masala, Bruno Lucio. - In: HEMOGLOBIN. - ISSN 0363-0269. - 33:6(2009), pp. 480-485. [10.3109/03630260903343574]
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
MEREU, Paolo;PIRASTRU, Monica;MANCA, Laura;MASALA, Bruno Lucio
2009-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
