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Klin Lab Diagn ; 61(3): 151-4, 167-8, 2016 Mar.
Artículo en Ruso | MEDLINE | ID: mdl-27506106

RESUMEN

The article presents diagnostic of night paroxysmal hemoglobinuria. The night paroxysmal hemoglobinuria is an orphan disease characterized by absence of GPI-anchor on blood cells as a result of mutation of PIG-A gene on the short arm of X-chromosome. The particular proteins bounded with GPI-anchor implement function of defense from activation of components of complement and development of membrane-attacking complex. The erythrocytes exposed to destruction in bloodstream are among the most impacted. Therefore, one of the main signs of night paroxysmal hemoglobinuria is complement-depending intravascular hemolysis which indicators for a long time played a key role in diagnostic of night paroxysmal hemoglobinuria. The actual technique of diagnostic of night paroxysmal hemoglobinuria is flow cytometry. The analysis of night paroxysmal hemoglobinuria clone is recommended to patients with hemolysis of unclear genesis, thrombosis of cerebral and abdominal veins, thrombocytopenia and macrocytosis and also patients with AA, myelodysplastic syndrome, myelofibrosis. The international protocol recommended by the International Society of Clinical Cytometry (2010) is implemented to diagnose night paroxysmal hemoglobinuria. The original technique of evaluation of reticulocytes was developed with purpose to detect night paroxysmal hemoglobinuria clone. The high correlation was substantiated between size of night paroxysmal hemoglobinuria clone measured among reticulocytes according to proposed mode and night paroxysmal hemoglobinuria clone measured among granulocytes and monocytes detected according international standardized approach.


Asunto(s)
Complejo de Ataque a Membrana del Sistema Complemento/metabolismo , Membrana Eritrocítica/metabolismo , Citometría de Flujo/métodos , Hemoglobinuria Paroxística/sangre , Hemoglobinuria Paroxística/diagnóstico , Proteínas de la Membrana/sangre , Cromosomas Humanos X , Activación de Complemento/genética , Complejo de Ataque a Membrana del Sistema Complemento/genética , Diagnóstico Diferencial , Membrana Eritrocítica/genética , Femenino , Proteínas Ligadas a GPI/sangre , Proteínas Ligadas a GPI/genética , Hemoglobinuria Paroxística/genética , Humanos , Masculino , Proteínas de la Membrana/genética , Mutación , Recuento de Reticulocitos
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