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
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...
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todo:paper_09395555_v90_n6_p625_Crisp2023-10-03T15:48:53Z 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 Crisp, R.L. Solari, L. Vota, D. García, E. Miguez, G. Chamorro, M.E. Schvartzman, G.A. Alfonso, G. Gammella, D. Caldarola, S. Riccheri, C. Vittori, D. Venegas, B. Nesse, A. Donato, H. Anemia Hemolytic anemia Hereditary anemia Red blood cell membrane Spherocytosis ankyrin spectrin adolescent adult aged anemia Argentina article autohemolysis test child controlled study cryohemolysis test diagnostic accuracy diagnostic test accuracy study diagnostic value disease severity eosin 5' maleimide flow cytometry fluorescence analysis hereditary spherocytosis human infant laboratory test major clinical study osmotic fragility polyacrylamide gel electrophoresis predictive value preschool child priority journal prospective study protein deficiency reference value school child sensitivity and specificity Adolescent Adult Aged Argentina Child Child, Preschool Electrophoresis, Polyacrylamide Gel Family Flow Cytometry Hematologic Tests Hemolysis Humans Infant Infant, Newborn Laboratory Techniques and Procedures Maleimides Middle Aged Predictive Value of Tests Prospective Studies Spherocytosis, Hereditary Young Adult 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. © 2010 Springer-Verlag. Fil:Vota, D. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Chamorro, M.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Vittori, D. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Nesse, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_09395555_v90_n6_p625_Crisp |
| institution |
Universidad de Buenos Aires |
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I-28 |
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R-134 |
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Anemia Hemolytic anemia Hereditary anemia Red blood cell membrane Spherocytosis ankyrin spectrin adolescent adult aged anemia Argentina article autohemolysis test child controlled study cryohemolysis test diagnostic accuracy diagnostic test accuracy study diagnostic value disease severity eosin 5' maleimide flow cytometry fluorescence analysis hereditary spherocytosis human infant laboratory test major clinical study osmotic fragility polyacrylamide gel electrophoresis predictive value preschool child priority journal prospective study protein deficiency reference value school child sensitivity and specificity Adolescent Adult Aged Argentina Child Child, Preschool Electrophoresis, Polyacrylamide Gel Family Flow Cytometry Hematologic Tests Hemolysis Humans Infant Infant, Newborn Laboratory Techniques and Procedures Maleimides Middle Aged Predictive Value of Tests Prospective Studies Spherocytosis, Hereditary Young Adult |
| spellingShingle |
Anemia Hemolytic anemia Hereditary anemia Red blood cell membrane Spherocytosis ankyrin spectrin adolescent adult aged anemia Argentina article autohemolysis test child controlled study cryohemolysis test diagnostic accuracy diagnostic test accuracy study diagnostic value disease severity eosin 5' maleimide flow cytometry fluorescence analysis hereditary spherocytosis human infant laboratory test major clinical study osmotic fragility polyacrylamide gel electrophoresis predictive value preschool child priority journal prospective study protein deficiency reference value school child sensitivity and specificity Adolescent Adult Aged Argentina Child Child, Preschool Electrophoresis, Polyacrylamide Gel Family Flow Cytometry Hematologic Tests Hemolysis Humans Infant Infant, Newborn Laboratory Techniques and Procedures Maleimides Middle Aged Predictive Value of Tests Prospective Studies Spherocytosis, Hereditary Young Adult Crisp, R.L. Solari, L. Vota, D. García, E. Miguez, G. Chamorro, M.E. Schvartzman, G.A. Alfonso, G. Gammella, D. Caldarola, S. Riccheri, C. Vittori, D. Venegas, B. Nesse, A. Donato, H. 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 |
| topic_facet |
Anemia Hemolytic anemia Hereditary anemia Red blood cell membrane Spherocytosis ankyrin spectrin adolescent adult aged anemia Argentina article autohemolysis test child controlled study cryohemolysis test diagnostic accuracy diagnostic test accuracy study diagnostic value disease severity eosin 5' maleimide flow cytometry fluorescence analysis hereditary spherocytosis human infant laboratory test major clinical study osmotic fragility polyacrylamide gel electrophoresis predictive value preschool child priority journal prospective study protein deficiency reference value school child sensitivity and specificity Adolescent Adult Aged Argentina Child Child, Preschool Electrophoresis, Polyacrylamide Gel Family Flow Cytometry Hematologic Tests Hemolysis Humans Infant Infant, Newborn Laboratory Techniques and Procedures Maleimides Middle Aged Predictive Value of Tests Prospective Studies Spherocytosis, Hereditary Young Adult |
| description |
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. © 2010 Springer-Verlag. |
| format |
JOUR |
| author |
Crisp, R.L. Solari, L. Vota, D. García, E. Miguez, G. Chamorro, M.E. Schvartzman, G.A. Alfonso, G. Gammella, D. Caldarola, S. Riccheri, C. Vittori, D. Venegas, B. Nesse, A. Donato, H. |
| author_facet |
Crisp, R.L. Solari, L. Vota, D. García, E. Miguez, G. Chamorro, M.E. Schvartzman, G.A. Alfonso, G. Gammella, D. Caldarola, S. Riccheri, C. Vittori, D. Venegas, B. Nesse, A. Donato, H. |
| author_sort |
Crisp, R.L. |
| 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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| url |
http://hdl.handle.net/20.500.12110/paper_09395555_v90_n6_p625_Crisp |
| work_keys_str_mv |
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