Identification of HB J-Sardegna [α 50(CE8)His→Asp] by HPLC and its Incidence in Northern Sardinia

Abstract

As many as 7,717 babies born consecutively and 3,412 blood donors of Sardinian ancestry have been examined for the detection of the Hb J-Sardegna variant [α50(CE8)His→Asp]; all subjects were from Northern Sardinia. Hemolysates were analyzed by isoelectricfocusing and the identification of the variant was made by reversed phase high performance liquid chromatography of the tryptic peptides. A total of 28 carriers (1:397) of Hb J-Sardegna were identified. The incidence of 0.25% makes this hemoglobin one of the most common α-globin structural mutants in humans. The distribution of the anomaly appears to be non-homogeneous in the island. The quantity of the variant ranged from 19 to 36%; this wide range probably reflects the co-inheritance of an α-thalassemia anomaly.