title: [Diagnosis of beta-thalassemia on the basis of HbA2 determination].
abstract: The increased level of HbA2 is a reliable marker of heterozygous beta-thalassaemia. The levels of HbA2 measured by three different methods were compared and the ranges for the normal and for the heterozygous beta-thalassaemia were assessed. The levels of HbA2 2.76 +/- 0.47% for normal (30 blood donors) and 4.62 +/- 0.77% for beta-thalassaemia (50 patients) were obtained by the chromatographic method 2.61 +/- 0.42% HbA2 for normal (30 blood donors) and 5.82 +/- 0.89% HbA2 for beta-thalassaemia (46 patients) were assessed by electrophoresis on hydragel (Sebia) and 2.8 +/- 0.62% HbA2 for normal (30 blood donors) and 6.04 +/- 0.96% HbA2 (47 patients) were found when using cellulose acetate electrophoresis. An increased level of foetal Hb was found in nine patients with beta-thalassaemia. The diagnosis of beta-thalassaemia was confirmed by molecular genetic methods in all cases with an elevated HbA2 level, while a normal HbA2 level did not rule out heterozygous beta-thalassaemia.
authors.affiliation: Ustav hematologie a krevní transfuze, Praha.
authors.forename: H
authors.initials: H
authors.lastname: Fortová
authors.forename: V
authors.initials: V
authors.lastname: Slavíková
authors.forename: F
authors.initials: F
authors.lastname: Musil
authors.forename: J
authors.initials: J
authors.lastname: Suttnar
authors.forename: V
authors.initials: V
authors.lastname: Brabec
mesh_terms: D002845:Chromatography; D004586:Electrophoresis; D006580:Genetic Carrier Screening; D006443:Hemoglobin A2 / Q000032:analysis*; D006801:Humans; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006443:Hemoglobin A2
vernacular_title: Diagnostika beta-talasémie na základĕ stanovení HbA2.