Artículos de revistas
Community Program And G-6-pd Deficiency In Brazil [programa Comunitário E Deficiência De G-6-pd No Brasil]
Registro en:
Revista Brasileira De Hematologia E Hemoterapia. , v. 22, n. 1, p. 33 - 39, 2000.
15168484
2-s2.0-52849136419
Autor
Compri M.B.
Polimeno N.C.
Vieira M.J.A.
Saad S.T.O.
Ramalho A.S.
Institución
Resumen
This study tested the viability and efficiency of a glucose-6-phosphate dehydrogenase deficiency program in which a Brazilian community - the town of Bragança Paulista, SP (Brazil) was involved. The screening was done among blood donors and the diagnosis of glucose-6-phosphate dehydrogenase deficiency was confirmed through enzymatic quantification and through electrophoresis of the enzyme. A total of 4,621 individuals were tested over a period of 36 months. A total of 80 individuals with glucose-6-phosphate dehydrogenase deficiency were detected - 1,7% of the samples examined. The acceptance rate to the optional genetic orientation got to 61% and the percentage of good assimilation concerning the offered information was 81%. The molecular analysis demonstrated the presence, almost exclusive, in the community of the A or African variant, a benign mutation. With a verity low annual cost, it was possible not only to make diagnosis and to advise a significant number of families with glucose-6-phosphate dehydrogenase deficiency, but also to start the education of the community towards this problem. 22 1 33 39 Modell, B., Cystic fibrosis screening and community genetics (1990) J. Med. Genet., 27, pp. 475-479 Modell, B., Kuliev, A., The history of community genetics: The contribution of the haemoglobin disorders (1998) J. Community Genet., 1, pp. 3-11 Ten Kate, L.P., Editorial (1998) J. Communitiy Genet., 1, pp. 1-2 Teixera, R.C., Ramalho, A.S., Genetics and public health: Response of a Brazilian population to an optional hemoglobinopathy program (1994) Rev. Bras. Genet., 17, pp. 435-438 Compri, M.B., Polimeno, N.C., Stella, M.B., Ramalho, A.S., Programa comunitário de hemoglobinopatias hereditárias em população estudantil brasileira (1996) Rev. de Saúde Pública, 30, pp. 187-195 Glucose-6-phosphate dehydrogenase deficiency. Report of a WHO working group (1995) Bull. World Health Organiz., 67, pp. 601-611 Luzzato, L., Mehta, A., Glucose-6-phosphate dehydrogenase deficieny (1995) The Metabolic and Molecular Basis of Inherited Disease, , Scriver, C.R. Beaudet, A.L. Sly, W.S. & Valle, D. (Eds). New York, Mc Graw-Hill Sena, L.L.A., Ramalho, A.S., Clinical evaluation of glucose-6-phosphate dehydrogenase deficiency in a Brazilian population (1985) Rev. Bras. Genet., 8, pp. 89-96 Mollison, P.L., (1974) Blood Transfusion in Clinical Medicine, , Oxford, Blackwell Brewer, G.J., Tarlov, A.R., Alving, A.S., The methemoglobin reduction test of primaquine type sensitivity of erythrocytes. A simplified procedure for detecting a specific hypersusceptibilitiy to drug hemolysis (1962) JAMA, 5, pp. 126-128 Beutler, E., (1972) Red Cell Metabolism. A Manual of Biochemical Methods. 2 - a Ed., , New York, Grune & Stratton Sparks, R.S., Balluda, M.C., Townsend, D.E., Cellulose acetate electrophoresis of human G-6-PD (1969) J. Lab. Clin. Med., 73, pp. 531-534 (1996) CREMESP - Conselho Regional de Medicina Do Estado de São Paulo, Ética Médica., , São Paulo, Editora do Círculo do Livro - SP Maniatis, T., Fritsch, E.F., Sambroock, J., (1989) Molecular Cloning, A Laboratory Manual, , New York, Spring Harbor Ed Poggi, V., Town, M., Foulpes, N.S., Luzzato, L., Identifícation of a single base in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain reaction amplification of the entire coding region genomic DNA (1990) Biochem. J., 271, pp. 157-160 Orita, M., Iwahana, H., Kanazawa, K., Sekyta, T., Detection of polymorphism of human DNA by gel electrophoresis as a single strand conformation polymorphisms (1989) Proc. Natl. Acad. Sci., 86, pp. 2766-2770 Paiva e Silva, P.E., Ramalho, A.S., Riscos e benefícios da triagem genética: O traço falciforme como modelo de estudo em uma população brasileira (1997) Cad. de Saúde Pública, 13, pp. 285-294 Serra, H.G., Martins, C.S.B., Paiva E Siva, R.B., Ramalho, A.S., Evaluation of counseling offered to Brazilian carriers of the betathalassemia trait and to their relatives (1995) Rev. Bras. Genet., 18, pp. 479-484 Wertz, D.C., Genetic counseling in Mexico (1998) Am. J. Med. Genet., 75, pp. 424-425 Saad, S.T.O., Salles, T.S.I., Carvalho, M.H.M., Costa, F.F., Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Brazil (1997) Hum Hered., 47, pp. 17-21 Weimer, T.A., Salzano, F.M., Westwood, B., Beutler, E., G-6-PD variants in three South American ethnic groups: Population distribution and description of two new mutations (1998) Hum. Hered., 48, pp. 92-96 Ramalho, A.S., (1986) As Hemoglobinopatias Hereditárias. Um Problema de Saúde Pública No Brasil. Ribeirão Preto, , Editora da Sociedade Brasileira de Genética Beiguelman, B., (1983) Farmacogenética e Os Sistemas Sangüíneos Eritrocitários, , Rio de Janeiro, Editora Guanabara-Koogan