title: [Diagnosis of thalassemias and hemoglobinopathies by HPLC (high performance liquid chromatography): study of 627 patients].
abstract: Red cell haemolysates of 627 patients with mainly microcytic anaemia were subjected to HPLC for diagnosis of thalassaemia (thal) or haemoglobinopathy during 1998. Thalassaemia was diagnosed in 16.3% (95 beta-thal minor, 1 beta-thal major, 2 delta beta-thal heterozygote, 4 alpha-thal1), haemoglobinopathies in 3.5% (10 Hb S including 3 Hb S-alpha-thal, 1 homozygote, 1 Hb SC and 1 Hb SE; 6 Hb E including 3 homozygotes; 3 Hb Lepore heterozygotes; 1 Hb K; 1 Hb O-Arab*; 1 Hb K-Ibadan* [* = confirmed by DNA sequencing]). In 10.7% of patients severe iron-deficiency (ferritin < 7 micrograms/l) was the cause of microcytosis (MCV 72.1 +/- 2.6 fl) and anaemia (Hb 97.2 +/- 9.8 g/l). The beta-thal minor group showed prominent microcytosis (MCV 66.9 +/- 2.6 fl) but only mild anaemia (Hb 114.1 +/- 12.9 g/l). Variant Hb K-Ibadan und Hb O-Arab were found during quantification of HbA1c. Patients with beta-thal minor or severe iron-deficiency anaemia were identified with equal frequency in adult females, children and adolescents of both sexes; however, in adult males beta-thal minor was the most frequent aetiology (> 90%) of microcytic anaemia. Our results demonstrate the diagnostic value of red cell lysate HPLC and ferritin determination when evaluating unclear microcytic anaemia. This approach, together with die HbA1c-quantification by HPLC, will render possible detailed diagnosis of thalassaemia and haemoglobinopathies.
authors.affiliation: Abteilungen für Hämatologie und Chemie, Institut Dr. Viollier, Basel.
authors.forename: G
authors.initials: G
authors.lastname: Sabo
authors.forename: U
authors.initials: U
authors.lastname: Brodbeck
authors.forename: N
authors.initials: N
authors.lastname: Cardile
authors.forename: A F
authors.initials: AF
authors.lastname: Viollier
authors.forename: T
authors.initials: T
authors.lastname: Scheurmann
authors.forename: H
authors.initials: H
authors.lastname: Knecht
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D006580:Genetic Carrier Screening; D006451:Hemoglobin, Sickle / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis*
chemical_list: D006451:Hemoglobin, Sickle; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal