title: Hb A1cDetermination by Capillary Electrophoresis is an Efficient Method for Detecting β-Thalassemias and Hemoglobin Variants.
abstract: Glycated hemoglobin (Hb A1c) determination by multicapillary zone electrophoresis (MZE) can additionally be used to detect Hb A2, Hb F and most common hemoglobin (Hb) variants. We assessed the effectiveness of this method for detecting β-thalassemia (β-thal), δβ-thalassemia (δβ-thal) and most common Hb variants. Moreover, Hb F/Hb A2is evaluated as an index for discriminating between β- and δβ-thal traits. The theoretical β-thalassemia major (β-TM) birth rate in our healthcare area is calculated and contrasted with real data. A MZE technique was used for Hb A1cmeasurements in 27,724 patients. Previous criteria for carrier detection were established and subsequently confirmed by molecular biology techniques. Positive predictive value (PPV) was 100.0%. The prevalence of β-thal trait (including δβ-thal) was 0.34%. The most prevalent mutations (estimated per 100,000 population) were HBB: c.118C > T (57.7%), HBB: c.93-21G>A (50.5%), HBB: c.92 + 1G > A (43.3%), HBB: c.92 + 6T > C (32.5%) and HBB: c.20delA (18.0%) for β-thalassemias, and Hb S (HBB: c.20A > T) (32.5%) and Hb J-Baltimore (HBB:c.3880T>A) (28.9%) for Hb variants. We found a paradoxical result between the theoretical β-TM birth rate and real data. We calculated an optimal Hb F/Hb A2index cutoff of 0.71 for discriminating between β- and δβ-thal traits. This method is highly cost-effective for detecting β-thalassemias and common Hb variants. Prevalence results match previous data for the Spanish population. Heterogeneity of mutations in Spain has markedly increased as a consequence of migration. The Hb F/Hb A2index cutoff could be used to predict δβ-thal trait.
authors.affiliation: a Department of Biochemistry , Hospital Universitario de la Ribera , Alzira , Valencia , Spain.
authors.forename: Juan A
authors.initials: JA
authors.lastname: Orts
authors.affiliation: b Department of Molecular Biology , Hospital Universitario de la Ribera , Alzira , Valencia , Spain.
authors.forename: Ángel
authors.initials: Á
authors.lastname: Zúñiga
authors.affiliation: b Department of Molecular Biology , Hospital Universitario de la Ribera , Alzira , Valencia , Spain.
authors.forename: Yanis
authors.initials: Y
authors.lastname: Bello
authors.affiliation: a Department of Biochemistry , Hospital Universitario de la Ribera , Alzira , Valencia , Spain.
authors.forename: Aleix B
authors.initials: AB
authors.lastname: Fabregat
authors.affiliation: c Department of Hematology , Hospital Universitario de la Ribera , Alzira , Valencia , Spain.
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vicente
mesh_terms: D003937:Diagnosis, Differential; D019075:Electrophoresis, Capillary / Q000379:methods*; D005319:Fetal Hemoglobin / Q000032:analysis; D006442:Glycated Hemoglobin / Q000032:analysis*; D006443:Hemoglobin A2 / Q000032:analysis; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015995:Prevalence; D013030:Spain; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology; D055538:delta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology
chemical_list: D005319:Fetal Hemoglobin; D006442:Glycated Hemoglobin; D006443:Hemoglobin A2; D006455:Hemoglobins, Abnormal
keywords: Hb A; Hb F; diabetes mellitus (DM); electrophoresis; glycosylated hemoglobin (Hb A1c); hemoglobinopathies; sickle cell trait; β-Thalassemia (β-thal); δβ-thalassemia (β-thal)