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HB Setif [A94(Gi)Asp+Tyr] in Malta

Abstract

Since testing of newborn infants for abnormal hemoglobins (Hbs) was reinitiated in Malta in 1989, about 20,000 cord blood samples have been studied with an isoelectrofocusing (IEF) technique (1). Among these, 2% have an abnormal Hb, i.e. 1.8% have a y-globin variant, and 0.2% have an a-globin variant (2). P-Globin variants have been noted only sporadically. In a further survey for hemoglobinopathies in elderly members of the Maltese population, the presence of two a-globin variants that differed in amount and electrophoretic mobility, was noted (Fig. 1). One had a pl and peptide map consistent with that of Hb St. Luke’s [a95(G2)Pro+Arg] which occurs at levels of around 10% of total Hb in heterozygotes from Malta (3,4). The other had a slower electrophoretic mobility and was more abundant in the red cell lysate. It was present in the proband, a healthy 88-year-old male, and in his healthy 91 -year-old sister.peer-reviewe

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