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Genet. mol. res. (Online) ; 6(2): 453-460, 2007.
Article Dans Anglais | LILACS | ID: lil-482024

Résumé

The purpose of the present study was to establish reference values for hemoglobins (Hb) using HPLC, in samples containing normal Hb (AA), sickle cell trait without alpha-thalassemia (AS), sickle cell trait with alpha-thalassemia (ASH), sickle cell anemia (SS), and Hb SC disease (SC). The blood samples were analyzed by electrophoresis, HPLC and molecular procedures. The Hb A2 mean was 4.30 +/- 0.44% in AS, 4.18 +/- 0.42% in ASH, 3.90 +/- 1.14% in SS, and 4.39 +/- 0.35% in SC. They were similar, but above the normal range. Between the AS and ASH groups, only the amount of Hb S was higher in the AS group. The Hb S mean in the AS group was 38.54 +/- 3.01% and in the ASH it was 36.54 +/- 3.76%. In the qualitative analysis, using FastMap, distinct groups were seen: AA and SS located at opposite extremes, AS and ASH with overlapping values and intermediate distribution, SC between heterozygotes and the SS group. Hb S was confirmed by allele-specific polymerase chain reaction. The Hb values established will be available for use as a reference for the Brazilian population, drawing attention to the increased levels of Hb A2, which should be considered with caution to prevent incorrect diagnoses.


Sujets)
Humains , Chromatographie en phase liquide à haute performance/méthodes , Hémoglobines/composition chimique , Biologie informatique/méthodes , Brésil , Électrophorèse/méthodes , Phénotype , Hémoglobines/analyse , Hétérozygote , Modèles statistiques , Mutation , alpha-Thalassémie/sang , Trait drépanocytaire/sang , Techniques génétiques , Valeurs de référence
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