Resumen

OROPEZA, Teresa et al. Detection of sickle cell trait carriers in a population sample of Maracay and its Metropolitan area. Comunidad y Salud [online]. 2014, vol.12, n.1, pp.46-55. ISSN 1690-3293.

The sickle cell disease is a genetic disease, with autosomal recessive inheritance pattern, characterized by the presence of sickleshaped red blood cells, which cannot pass efficiently through the capillaries causing vaso-occlusion, tissue damage and painful crisis. In Aragua State it has been reported a relatively high frequency of sickle cell patients and healthy carriers of sickle cell trait, who may be symptomatic under conditions of hypoxia. The aim of this study was to detect carriers of sickle cell trait in a sample of 200 nonrelated individuals without symptoms of sickle cell disease, habitants of Maracay and its metropolitan area, Aragua state, to provide genetic-pathological information relevant to families of healthy carriers identified. After obtaining informed consent, a sample of peripheral blood was taken to detect sickle cell through sodium metabisulfite test, the diagnosis was confirmed by a Polymerase Chain Reaction test and subsequent digestion by Bsu 36 I enzyme. Thirteen carriers of sickle cell trait were found, (6.5%). By including 20 relatives of 6 healthy carriers a frequency of 45% was obtained. Pathological genetic information to the family was provided with emphasis on prevention of exposure to risk factors and prevention of production of homozygous affected birth. These results highlight the need to establish detection and education of sickle cell trait carriers to prevent health complications in these individuals.

Palabras clave : Sickle cell trait carriers; carrier detection; sickle cell anemia.

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