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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] aready described in the Brazilian population

Mereu, Paolo and Multineddu, Chiara and Sannai, Mara and Pirastru, Monica and Manca, Laura and Masala, Bruno Lucio (2009) 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] aready described in the Brazilian population. Hemoglobin, Vol. 33 (6), p. 480-485. eISSN 1532-432X. Article.

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DOI: 10.3109/03630260903343574

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.

Item Type:Article
ID Code:3381
Status:Published
Refereed:Yes
Uncontrolled Keywords:Newborn screening, DNA sequencing, High performance liquid chromatography (HPLC), isoelectric focusing (IEF), Gγ chain variant, aγchain variant
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
Publisher:Taylor & Francis
eISSN:1532-432X
Deposited On:15 Jan 2010 17:47

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