title: Evaluation of eight and a half years of neonatal screening for haemoglobinopathies in Birmingham.
abstract: A pilot neonatal screening programme for haemoglobinopathies linked with screening for phenylketonuria and congenital hypothyroidism was reviewed. During 1978 to December 1986 137,000 neonates were tested. There were improvements in the detection rate and accuracy of diagnosis for homozygotes and mixed heterozygotes, mainly associated with the introduction of citrate agarose gel electrophoresis as a follow up procedure on all specimens showing any abnormality on the initial cellulose acetate electrophoresis. We recommend that the programme is continued on a service basis.
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005069:Evaluation Studies as Topic; D005500:Follow-Up Studies; D006450:Hemoglobin SC Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics