[Diagnosis of beta-thalassemia on the basis of HbA2 determination].
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.
Fortová
H
H
Ustav hematologie a krevní transfuze, Praha.
Slavíková
V
V
Musil
F
F
Suttnar
J
J
Brabec
V
V
D002845:Chromatography; D004586:Electrophoresis; D006580:Genetic Carrier Screening; D006443:Hemoglobin A2 / Q000032:analysis*; D006801:Humans; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006443:Hemoglobin A2
Diagnostika beta-talasémie na základĕ stanovení HbA2.