Rastreamento de hemoglobinas variantes e talassemias com associação de métodos de diagnóstico

Abstract

The neonatal diagnosis hemoglobinopathies improves the quality of life by prophylactic measures and genetic counseling. The diagnosis of variant hemoglobins and thalassemias was considered in the present study. Cord blood samples of newborn babies from the northwestern region of São Paulo state were analyzed by High Performance Liquid Chromatography (HPLC) associated with electrophoretic, biochemical and cytologic procedures aiming to adapt the best methodology to analyze the frequency of hemoglobin defects in the Brazilian population. Three thousand and forty-eight samples were analyzed from January 2001 to December 2002 with 13.12% presenting hemoglobin alterations; 1.84% had Hb S; 0.6% had Hb C; 0.65% were suggestive of thalassemia beta and 9.48% were suggestive of thalassemia alpha. Among the abnormal hemoglobins, 0.33% of the samples presented different results in the methodologies used. HPLC was efficient to identify variant hemoglobins and enable the analysis of several samples in a short period of time with agility in screenin. However, an association of other methods was necessary for the characterization of the thalassemic forms.