title: Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.
abstract: We report a novel mutation, Hb A2-Monreale [delta146(HC3)His-->Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CAT-->CGT substitution at codon 146 of the delta-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [beta146(HC3)His-->Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the delta-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia.
authors.affiliation: Istituto di Genetica e Biofisica Adriano Buzzati Traverso, Consiglio Nazionale delle Ricerche, Napoli, Italia.
authors.forename: Maria
authors.initials: M
authors.lastname: De Angioletti
authors.forename: Caterina
authors.initials: C
authors.lastname: Di Girgenti
authors.forename: Rosalia
authors.initials: R
authors.lastname: Messineo
authors.forename: Marcello
authors.initials: M
authors.lastname: Capra
authors.forename: Clementina
authors.initials: C
authors.lastname: Carestia
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005189:False Positive Reactions; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012802:Sicily / Q000453:epidemiology; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C465352:hemoglobin A2-Monreale; D005914:Globins