title: A prospective study to assess the predictive value for hereditary spherocytosis using five laboratory tests (cryohemolysis test, eosin-5'-maleimide flow cytometry, osmotic fragility test, autohemolysis test, and SDS-PAGE) on 50 hereditary spherocytosis families in Argentina.
abstract: This prospective study was carried out to assess the usefulness of five laboratory tests in the diagnosis of hereditary spherocytosis (HS), based on the correlation of erythrocyte membrane protein defects with clinical and laboratory features, and also to determine the membrane protein deficiencies detected in Argentina. Of 116 patients and their family members tested, 62 of them were diagnosed to have HS. The specificity of cryohemolysis (CH) test was 95.2%, and its cut-off value to distinguish HS from normal was 2.8%. For flow cytometry, cut-off points of 17% for mean channel fluorescence (MCF) decrease and 14% coefficient of variation (CV) increase showed 95.9% and 92.2% specificity, respectively. Both tests showed the highest percentages of positive results for diagnosis. Either CH or flow cytometry was positive in 93.5% of patients. In eight patients, flow cytometry was positive only through CV increase. Protein defects were detected in 72.3% of patients; ankyrin and spectrin were the most frequently found deficiencies. The CV of the fluorescence showed significantly higher increases in moderate and severe anemia than in mild anemia (p = 0.003). Severity of anemia showed no other correlation with tests results, type of deficient protein, inheritance pattern, or neonatal jaundice. CH and flow cytometry are easy methods with the highest diagnostic accuracy. Simultaneous reading of mean channel fluorescence (MCF) decrease and CV increase improve diagnostic usefulness of flow cytometry. This test seems to be a reliable predictor of severity. The type of detected protein deficiency has no predictive value for outcome. Predominant ankyrin and spectrin deficiencies agree with reports from other Latin American countries.
authors.affiliation: División Hematología Clínica, Departamento de Medicina, Hospital Nacional Alejandro Posadas, Buenos Aires, Argentina. reneecrisp@gmail.com
authors.forename: Renée L
authors.initials: RL
authors.lastname: Crisp
authors.forename: Liliana
authors.initials: L
authors.lastname: Solari
authors.forename: Daiana
authors.initials: D
authors.lastname: Vota
authors.forename: Eliana
authors.initials: E
authors.lastname: García
authors.forename: Gabriela
authors.initials: G
authors.lastname: Miguez
authors.forename: Maria E
authors.initials: ME
authors.lastname: Chamorro
authors.forename: Gabriel A
authors.initials: GA
authors.lastname: Schvartzman
authors.forename: Graciela
authors.initials: G
authors.lastname: Alfonso
authors.forename: Daniel
authors.initials: D
authors.lastname: Gammella
authors.forename: Sergio
authors.initials: S
authors.lastname: Caldarola
authors.forename: Cecilia
authors.initials: C
authors.lastname: Riccheri
authors.forename: Daniela
authors.initials: D
authors.lastname: Vittori
authors.forename: Belen
authors.initials: B
authors.lastname: Venegas
authors.forename: Alcira
authors.initials: A
authors.lastname: Nesse
authors.forename: Hugo
authors.initials: H
authors.lastname: Donato
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001118:Argentina; D002648:Child; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques / Q000592:standards; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005190:Family; D005434:Flow Cytometry; D006403:Hematologic Tests / Q000379:methods*; D006461:Hemolysis / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008301:Maleimides; D008875:Middle Aged; D011237:Predictive Value of Tests; D011446:Prospective Studies; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000175:diagnosis*; D055815:Young Adult
chemical_list: D008301:Maleimides; C043592:maleimide