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Hemoglobin ; 32(5): 491-7, 2008.
Article in English | MEDLINE | ID: mdl-18932075

ABSTRACT

Two new fetal hemoglobin (Hb F) variants affecting the (G)gamma chain are reported: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]. These new Hb variants were found during a neonatal screening for hemoglobinopathies but characterized a few months later by our reference laboratory. The corresponding mutations are located on the external part of the Hb molecule and seem to be clinically silent.


Subject(s)
Fetal Hemoglobin/genetics , Hemoglobins, Abnormal/genetics , gamma-Globins/genetics , Genetic Testing , Hemoglobinopathies/diagnosis , Hemoglobinopathies/genetics , Humans , Infant, Newborn , Male , Mutation
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