title: Reliability of isoelectrofocusing for the detection of Hb S, Hb C, and HB D in a pioneering population-based program of newborn screening in Brazil.
abstract: Out of 128,326 newborns in the first 6-month period of a population-based screening program in Minas Gerais, Brazil, a second sample was obtained at the age of 6 months from 4,635 carriers of Hbs AS, AC, and AD which were detected by isoelectrofocusing. Discordance in results occurred in only 27 cases (0.6%): in seven there was a history of hemotransfusion; errors during pipetting or transcription of results occurred in seven cases; it was difficult to differenciate between Hbs S and D in eight patients; and the causes were not elucidated in five patients. The incidence of Hbs FS and FSC for the total population was 1:2,800 and 1:3,450, respectively. Isoelectrofocusing is a very reliable method for distinguishing AS, AC, or AD carriers from patients presenting with [corrected] variant hemoglobin and beta(+)-thalassemia combinations, and may be widely used in massive newborn screening programs.
authors.affiliation: Núcleo de Pesquisa em Apoio Diagnóstico, Research Center for Newborn Screening, Federal University of Minas Gerais, Belo Horizonte, Brazil.
authors.forename: M C
authors.initials: MC
authors.lastname: Paixão
authors.forename: M H
authors.initials: MH
authors.lastname: Cunha Ferraz
authors.forename: J N
authors.initials: JN
authors.lastname: Januário
authors.forename: M B
authors.initials: MB
authors.lastname: Viana
authors.forename: J M
authors.initials: JM
authors.lastname: Lima
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology; D001938:Brazil / Q000453:epidemiology; D003951:Diagnostic Errors; D006444:Hemoglobin C / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D015997:Neonatal Screening / Q000379:methods*; D010641:Phenotype; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C032001:hemoglobin D; D006444:Hemoglobin C