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1. Two abnormal fetal hemoglobins found in the Sardinian population: the new Hb F-Osilo [(A)gamma119(GH2)Gly-->Ser, GGC > AGC] and Hb F-Paulinia [(G)gamma80(EF4)Asp-->Tyr, GAT > TAT] already described in the Brazilian population.

Author

Mereu P, Multineddu C, Sannai M, Pirastru M, Manca L, and Masala B

Subjects
Brazil, DNA Mutational Analysis, Hemoglobinopathies diagnosis, Humans, Infant, Newborn, Italy, Mutation, Fetal Hemoglobin genetics, Hemoglobins, Abnormal genetics, gamma-Globins genetics
Abstract

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.

Published
2009
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