Resumo

VARELA, Indira; SEQUERA, Alida  e  OLIVERO, Rhaiza. Detection of hemoglobinopathies in newborns. Salus [online]. 2013, vol.17, n.2, pp.6-12. ISSN 1316-7138.

Hemoglobinopathies are hereditary autosomic recessive disorders with a high prevalence worldwide. Venezuela is a country with a significant ethnical admixture, (Indian, European, African) in which the colonization process played a great role on the spread of abnormal genes of hemoglobin variants. Specifically, HbS and HbC were introduced mainly by the descendent of African slaves. In the present study we investigated the presence of hemoglobin variants in newborns from the maternity hospital "Dr. José María Vargas", Valencia. Samples of umbilical cord blood from a total of 507 newborns were analyzed. All samples were submitted to cellulose acetate electrophoresis at pH 8.6. Electrophoresis in agar gel at pH 6.5 was performed on samples presenting abnormal hemoglobin. Globin chains were studied using reversed phase HPLC to confirm abnormal hemoglobin. From a total of 507 samples, 496 (97.83%) presented with normal hemoglobin FA; 10 (1.97%) with phenotype FAS and 1 (0.2%) with phenotype FAC. Frecuencies found in the present study confirm the need to implement screening for hemoglobinopathies in the neonatal population, as well as a genetic counseling program.

Palavras-chave : Hemoglobinopathies; neonatal screening; sickle-cell anemia; electrophoresis; HPLC.

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