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

• Published in: Hemoglobin Vol. 25; no. 3; p. 297
• Main Authors: Paixão, M C, Cunha Ferraz, M H, Januário, J N, Viana, M B, Lima, J M
• Format: Journal Article
• Language: English
• Published: England 01.01.2001
• Subjects: Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - epidemiology; beta-Thalassemia - diagnosis; beta-Thalassemia - epidemiology; Brazil - epidemiology; Diagnostic Errors; Hemoglobin C - analysis; Hemoglobin, Sickle - analysis; Hemoglobinopathies - diagnosis; Hemoglobinopathies - epidemiology; Hemoglobins, Abnormal - analysis; Humans; Incidence; Infant; Infant, Newborn; Isoelectric Focusing; Neonatal Screening - methods; Phenotype; Brazil
• ISSN: 0363-0269
• DOI: 10.1081/HEM-100105222

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.