Prevalence of UGT1A1 (TA)n promoter polymorphism in Panamanians neonates with G6PD deficiency

A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may cause pronounced hyperbilirubinaemias. The aim of this study was to analyse the variations in the UGT1A1 gene promoter in Panamanians neonates with G6PD deficiency and its association with neonatal jaundice (NJ). We identified five different genotypes of TA repeats, in 17 neonates (42.5%) the normal variant TA6/TA6 and in the other 57.5% of the subjects: TA7/TA7 (12.5%), TA6/TA7 (40%), TA6/ TA8 (2.5%) and TA6/TA5 (2.5%). Additionally 75% of the 16 newborns that showed NJ had an abnormal variant in the promoter sequence, although, there was no significant difference (P = 0.068). The risk of jaundice in neonates with TA7 variant was thrice higher in subjects than with other alleles (P = 0.093, CI: 0.81–11.67). The TA7 allele frequency in this study (0.325) was consistent with the global frequency and similar to Caucasians. The results proved that there is no significant relationship between promoter polymorphism in UGT1A1 and NJ in G6PD deficient Panamanian newborns. Further studies with a greater number of subjects would determine the exact relationship between marked NJ and UGT1A promoter variations.

Derecho de los niños panameños a la salud / Panamanian children's right to health

De acuerdo con la Convención sobre los Derechos del Niño 1, los niños deben disfrutar del más alto nivel posible de salud y tener acceso a servicios para la prevención y el tratamiento de las enfermedades y la rehabilitación. La CDN enfatiza en particular que los países adopten las medidas apropiadas para reducir la mortalidad infantil, y en la niñez asegurar a todos los niños la prestación de la asistencia médica y la atención sanitaria que sean necesarias. Asimismo, se asume el compromiso de combatir las enfermedades y la malnutrición en el marco de la atención primaria de la salud mediante, entre otras cosas, la aplicación de la tecnología disponible, el suministro de alimentos nutritivos adecuados y agua potable salubre, teniendo en cuenta los peligros y riesgos de contaminación del ambiente.

According to the Convention on the Rights of the Child 1, children must enjoy the highest possible level of health and have access to services for the prevention and treatment of diseases and rehabilitation. The CRC particularly emphasizes that countries take appropriate measures to reduce infant mortality, and in childhood ensure that all children are provided with the necessary medical care and health care. Likewise, it is committed to fighting diseases and malnutrition within the framework of primary health care through, among other things, the application of available technology, the provision of adequate nutritious food and safe drinking water, taking into account the dangers and risks of environmental contamination