Artículo

Crisp, R.L.; Garcia, E.; Solari, L.; Rapetti, M.C.; Nesse, A.; Donato, H. "Hereditary spherocytosis: Clinical and diagnostic experience in Argentina " (2017) Acta Bioquimica Clinica Latinoamericana. 51(3):307-318
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Abstract:

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.

Registro:

Documento: Artículo
Título:Hereditary spherocytosis: Clinical and diagnostic experience in Argentina
Autor:Crisp, R.L.; Garcia, E.; Solari, L.; Rapetti, M.C.; Nesse, A.; Donato, H.
Filiación:Licenciada en Analisis Biologicos, Licenciada en Ciencias Quimicas, Hospital Posadas, Av. Marconi y Pte. Illia. EL PALOMAR, CP, Buenos Aires, 1684, Argentina
Medica. Especialista en Pediatria, Especialista en Hematologia Infantile, Argentina
Bioquimica. Especialista en Biologia Molecular Medica, Argentina
Medico. Especialista en Pediatria, Especialista en Hematologia, Especialista en Hematologia Infantil, Argentina
Division Hematologia Clinica, Hospital Nacional Profesor A. Posadas, Palomar, Buenos Aires, Argentina
Departamento de Quimica Biologica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Consultorios de Hematologia Infantil, Buenos Aires, Argentina
Division Hematologia y Oncologia Pediatrica, Hospital Nacional Profesor A. Posadas, Palomar, Buenos Aires, Argentina
Laboratorio de Citometria, Hospital Nacional Prof. A. Posadas, Palomar, Buenos Aires, Argentina
Seccion Hematologia/Oncologia, Hospital Del Nino de San Justo, San Justo, Buenos Aires, Argentina
Palabras clave:Anemia; Capillary blood; Eosin-5'-maleimide; Flow cytometry; Hemolytic anemia; Hereditary spherocytosis; Hypertonic cryohemolysis; Neonatal anemia; Osmotic fragility; Red blood cell membrane
Año:2017
Volumen:51
Número:3
Página de inicio:307
Página de fin:318
Título revista:Acta Bioquimica Clinica Latinoamericana
Título revista abreviado:Acta Bioquim. Clin. Latinoam.
ISSN:03252957
CODEN:ABCLD
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v51_n3_p307_Crisp

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Citas:

---------- APA ----------
Crisp, R.L., Garcia, E., Solari, L., Rapetti, M.C., Nesse, A. & Donato, H. (2017) . Hereditary spherocytosis: Clinical and diagnostic experience in Argentina . Acta Bioquimica Clinica Latinoamericana, 51(3), 307-318.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v51_n3_p307_Crisp [ ]
---------- CHICAGO ----------
Crisp, R.L., Garcia, E., Solari, L., Rapetti, M.C., Nesse, A., Donato, H. "Hereditary spherocytosis: Clinical and diagnostic experience in Argentina " . Acta Bioquimica Clinica Latinoamericana 51, no. 3 (2017) : 307-318.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v51_n3_p307_Crisp [ ]
---------- MLA ----------
Crisp, R.L., Garcia, E., Solari, L., Rapetti, M.C., Nesse, A., Donato, H. "Hereditary spherocytosis: Clinical and diagnostic experience in Argentina " . Acta Bioquimica Clinica Latinoamericana, vol. 51, no. 3, 2017, pp. 307-318.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v51_n3_p307_Crisp [ ]
---------- VANCOUVER ----------
Crisp, R.L., Garcia, E., Solari, L., Rapetti, M.C., Nesse, A., Donato, H. Hereditary spherocytosis: Clinical and diagnostic experience in Argentina . Acta Bioquim. Clin. Latinoam. 2017;51(3):307-318.
Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v51_n3_p307_Crisp [ ]