title: Identification of Hb J-Sardegna [alpha 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 [alpha 50(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 alpha-globin structural mutants in humans. The distribution of the anomaly appears to be nonhomogeneous in the island. The quantity of the variant ranged from 19 to 36%; this wide range probably reflects the co-inheritance of an alpha-thalassemia anomaly.
authors.affiliation: Institute of General Physiology and Biological Chemistry University of Sassari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: B
authors.initials: B
authors.lastname: Masala
mesh_terms: D000328:Adult; D001782:Blood Donors; D002851:Chromatography, High Pressure Liquid; D005828:Genetics, Population; D006448:Hemoglobin J / Q000302:isolation & purification*; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D007558:Italy; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal; C043667:Hemoglobin J Sardegna; D006448:Hemoglobin J