title: Diagnosis of sickle cell disease in chronically transfused patients.
abstract: Standard electrophoretic methods for the diagnosis of hemoglobinopathies are confounded in individuals chronically transfused. We present the accurate diagnosis of sickle cell disease in two such transfused patients by the application of polymerase chain reaction technology to analyze patient's hemoglobin beta-chain genes directly.
authors.affiliation: Department of Obstetrics and Gynecology, University of Chicago, Illinois 60637.
authors.forename: D R
authors.initials: DR
authors.lastname: Oliveri
authors.forename: C L
authors.initials: CL
authors.lastname: Ober
authors.forename: A L
authors.initials: AL
authors.lastname: Horwitz
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015986:Confounding Factors, Epidemiologic; D004247:DNA / Q000032:analysis; D005260:Female; D015894:Genome, Human; D006454:Hemoglobins / Q000235:genetics; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013997:Time Factors; D065227:Transfusion Reaction
chemical_list: D006454:Hemoglobins; D008764:Methylmalonic Acid; D004247:DNA