Asunto(s)
Diabetes Mellitus Tipo 2/genética , Adolescente , Adulto , Glucemia/análisis , Niño , Análisis Mutacional de ADN , Femenino , Genotipo , Factor Nuclear 1-alfa del Hepatocito/genética , Factor Nuclear 1-beta del Hepatocito/genética , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
Two rapid methods for fractionating the RBC into five or nine layers of increasing density are reported. These procedures have been used to monitor the decline of glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD) activity during the process of red cell aging in normal subjects and in beta-thal carriers, to study transfused patients with G6PD and pyruvate kinase (PK) deficiency and to test the effects of inositol hexaphosphate (IHP) encapsulation on RBC subpopulations.
Asunto(s)
Fraccionamiento Celular/métodos , Centrifugación por Gradiente de Densidad , Eritrocitos/enzimología , Deficiencia de Glucosafosfato Deshidrogenasa/sangre , Glucosafosfato Deshidrogenasa/sangre , Fosfogluconato Deshidrogenasa/sangre , Piruvato Quinasa/deficiencia , Talasemia/sangre , Adulto , Anemia Hemolítica/sangre , Niño , Pruebas Enzimáticas Clínicas , Composición de Medicamentos , Envejecimiento Eritrocítico , Femenino , Fructosa-Bifosfato Aldolasa/sangre , Heterocigoto , Hexoquinasa/sangre , Humanos , Masculino , Ácido Fítico/administración & dosificación , Povidona , Piruvato Quinasa/sangre , Reticulocitos/enzimología , Dióxido de SilicioRESUMEN
A new differential pH technique for glucose-6-phosphate dehydrogenase quantitative determination in whole blood has been evaluated. It is a rapid (90 s/analysis), reproducible (C.V. within-run 3.7%; between-run: 2.8%) and accurate method (in comparison with WHO method: r = 0.970). Reference intervals in non-deficient males were evaluated in 167 non-thalassaemics and in 60 beta-thal heterozygotes. The G6PD activity in beta-thalassaemia carriers is higher than in normals; this is particularly true if the activity is expressed in terms of U/g Hb. The phenotypic distribution measured in females is in agreement with that calculated by the Hardy-Weinberg law based on the incidence of the Gd(-) gene in males.