Hereditary spherocytosis: Clinical and diagnostic experience in Argentina

The aims of this study were (a) to assess demographic and clinical aspects of our population at diagnosis; (b) to evaluate diagnostic accuracy of hypertonic cryohemolysis (HC), eosin-5'-maleimide flow cytometry (EMA-FC) and flow cytometric osmotic fragility (OF-FC) in relation to standard scree...

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Autores principales: Crisp, R.L., Garcia, E., Solari, L., Rapetti, M.C., Nesse, A., Donato, H.
Formato: JOUR
Materias:
Anemia
Capillary blood
Eosin-5'-maleimide
Flow cytometry
Hemolytic anemia
Hereditary spherocytosis
Hypertonic cryohemolysis
Neonatal anemia
Osmotic fragility
Red blood cell membrane
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_03252957_v51_n3_p307_Crisp
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires
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spelling todo:paper_03252957_v51_n3_p307_Crisp2023-10-03T15:23:46Z Hereditary spherocytosis: Clinical and diagnostic experience in Argentina Crisp, R.L. Garcia, E. Solari, L. Rapetti, M.C. Nesse, A. Donato, H. Anemia Capillary blood Eosin-5'-maleimide Flow cytometry Hemolytic anemia Hereditary spherocytosis Hypertonic cryohemolysis Neonatal anemia Osmotic fragility Red blood cell membrane The aims of this study were (a) to assess demographic and clinical aspects of our population at diagnosis; (b) to evaluate diagnostic accuracy of hypertonic cryohemolysis (HC), eosin-5'-maleimide flow cytometry (EMA-FC) and flow cytometric osmotic fragility (OF-FC) in relation to standard screening tests osmotic fragility (OF) and autohemolysis (AH); (c) to confirm the previously reported prevalence of membrane proteins defects; and (d) to assess the relationship between severity of anemia and results of confirmatory tests. Since 2007, the following tests were available in our laboratory: OF, AH, HC, EMA-FC, OF-FC and SDS-PAGE of membrane proteins. Diagnostic criteria for hereditary spherocytosis were spherocytes in blood smear plus ≥2 positive tests. Data from 359 individuals were analyzed: 174 HS patients and 22 silent carriers were detected; 74.9% of patients were less than 12 years old; 83.1% of them showed a dominant inheritance pattern; antecedent of neonatal jaundice/anemia was registered in 89.1%. Tests with higher sensitivity were: HC (92.0%), incubated OF (91.1%), and EMA-FC (88.5%). HC, EMA-FC and OF-FC were simultaneously performed on 125 patients: each of them had at least 1 positive test; 122 (97.6%) had 2 or 3 positive tests. Ankyrin and spectrin were the most frequently found protein deficiencies. Comparison of test results in relation to severity of anemia showed no difference between groups. It can be concluded that compared toother Latin American countries, ankyrin and spectrin were the most frequent protein deficiencies. Simultaneous performing of HC, EMA-FC and OF-FC enabled diagnosing HS in more than 97% of patients. A high incidence of neonatal jaundice/anemia was observed. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03252957_v51_n3_p307_Crisp
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic Anemia
Capillary blood
Eosin-5'-maleimide
Flow cytometry
Hemolytic anemia
Hereditary spherocytosis
Hypertonic cryohemolysis
Neonatal anemia
Osmotic fragility
Red blood cell membrane
spellingShingle Anemia
Capillary blood
Eosin-5'-maleimide
Flow cytometry
Hemolytic anemia
Hereditary spherocytosis
Hypertonic cryohemolysis
Neonatal anemia
Osmotic fragility
Red blood cell membrane
Crisp, R.L.
Garcia, E.
Solari, L.
Rapetti, M.C.
Nesse, A.
Donato, H.
Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
topic_facet Anemia
Capillary blood
Eosin-5'-maleimide
Flow cytometry
Hemolytic anemia
Hereditary spherocytosis
Hypertonic cryohemolysis
Neonatal anemia
Osmotic fragility
Red blood cell membrane
description The aims of this study were (a) to assess demographic and clinical aspects of our population at diagnosis; (b) to evaluate diagnostic accuracy of hypertonic cryohemolysis (HC), eosin-5'-maleimide flow cytometry (EMA-FC) and flow cytometric osmotic fragility (OF-FC) in relation to standard screening tests osmotic fragility (OF) and autohemolysis (AH); (c) to confirm the previously reported prevalence of membrane proteins defects; and (d) to assess the relationship between severity of anemia and results of confirmatory tests. Since 2007, the following tests were available in our laboratory: OF, AH, HC, EMA-FC, OF-FC and SDS-PAGE of membrane proteins. Diagnostic criteria for hereditary spherocytosis were spherocytes in blood smear plus ≥2 positive tests. Data from 359 individuals were analyzed: 174 HS patients and 22 silent carriers were detected; 74.9% of patients were less than 12 years old; 83.1% of them showed a dominant inheritance pattern; antecedent of neonatal jaundice/anemia was registered in 89.1%. Tests with higher sensitivity were: HC (92.0%), incubated OF (91.1%), and EMA-FC (88.5%). HC, EMA-FC and OF-FC were simultaneously performed on 125 patients: each of them had at least 1 positive test; 122 (97.6%) had 2 or 3 positive tests. Ankyrin and spectrin were the most frequently found protein deficiencies. Comparison of test results in relation to severity of anemia showed no difference between groups. It can be concluded that compared toother Latin American countries, ankyrin and spectrin were the most frequent protein deficiencies. Simultaneous performing of HC, EMA-FC and OF-FC enabled diagnosing HS in more than 97% of patients. A high incidence of neonatal jaundice/anemia was observed.
format JOUR
author Crisp, R.L.
Garcia, E.
Solari, L.
Rapetti, M.C.
Nesse, A.
Donato, H.
author_facet Crisp, R.L.
Garcia, E.
Solari, L.
Rapetti, M.C.
Nesse, A.
Donato, H.
author_sort Crisp, R.L.
title Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
title_short Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
title_full Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
title_fullStr Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
title_full_unstemmed Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
title_sort hereditary spherocytosis: clinical and diagnostic experience in argentina
url http://hdl.handle.net/20.500.12110/paper_03252957_v51_n3_p307_Crisp
work_keys_str_mv AT crisprl hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
AT garciae hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
AT solaril hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
AT rapettimc hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
AT nessea hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
AT donatoh hereditaryspherocytosisclinicalanddiagnosticexperienceinargentina
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