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

Ann Hematol (2011) 90:625634 DOI 10.1007/s00277-010-1112-0

ORIGINAL ARTICLE

A prospective study to assess the predictive valuefor 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

Rene L. Crisp & Liliana Solari & Daiana Vota & Eliana Garca & Gabriela Miguez &

Maria E. Chamorro & Gabriel A. Schvartzman & Graciela Alfonso & Daniel Gammella &

Sergio Caldarola & Cecilia Riccheri & Daniela Vittori & Belen Venegas & Alcira Nesse &

Hugo Donato

Received: 8 July 2010 /Accepted: 21 October 2010 /Published online: 16 November 2010 # Springer-Verlag 2010

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

R. L. Crisp : G. AlfonsoDivisin Hematologa Clnica, Departamento de Medicina, Hospital Nacional Alejandro Posadas,Buenos Aires, Argentina

G. Alfonsoe-mail: [email protected]

R. L. Crisp : D. Vota : M. E. Chamorro : D. Vittori : A. Nesse Laboratorio de Anlisis Biolgicos, Departamento de Qumica Biolgica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires,Buenos Aires, Argentina

D. Votae-mail: [email protected]

M. E. Chamorroe-mail: [email protected]

D. Vittorie-mail: [email protected]

A. Nessee-mail: [email protected]

R. L. Crisp : G. A. Schvartzman : H. Donato Consultorios de Hematologa Infantil, Buenos Aires, Argentina

G. A. Schvartzmane-mail: [email protected]

H. Donatoe-mail: [email protected]

L. Solari : D. Gammella : B. VenegasLaboratorio de Citometra, Departamento de Diagnstico, Hospital Nacional Alejandro Posadas,Buenos Aires, Argentina

L. Solarie-mail: [email protected]

D. Gammellae-mail: [email protected]

B. Venegase-mail: [email protected]

E. Garca : C. RiccheriDivisin Hematologa y Oncologa Peditrica, Departamento de Pediatra, Hospital Nacional Alejandro Posadas,Buenos Aires, Argentina

E. Garcae-mail: [email protected]

626 Ann Hematol (2011) 90:625634

CH or flow...