title: 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.
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.
authors: Department of Physiological, Biochemical and Cell Sciences, and Center for Biotechnology Development and Biodiversity Research, University of Sassari, 07100, Sassari, Sardinia, Italy.
authors: Paolo
authors: P
authors: Mereu
authors: Chiara
authors: C
authors: Multineddu
authors: Mara
authors: M
authors: Sannai
authors: Monica
authors: M
authors: Pirastru
authors: Laura
authors: L
authors: Manca
authors: Bruno
authors: B
authors: Masala
mesh_terms: D001938:Brazil; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D009154:Mutation; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055545:gamma-Globins; C547655:hemoglobin F Osilo; C481801:hemoglobin F Paulinia; D005319:Fetal Hemoglobin