Full text in pdf format
Genetics and public health: response of a Brazilian population to an optional hemoglobinopathy program
Rosa Chelminsky Teixeira; Antonio Sérgio Ramalho
Departamento de Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Caixa Postal 6111, 13081-970, SP, Basil. Send correspondence to A.S.R.
ABSTRACT
The efficiency and viability of a hemoglobinopathy program was investigated. The program was offered on a voluntary basis to a Brazilian community (Araras, SP) and started with the blood analyses of pregnant women. A total of 2209 pregnant women were screened in the first 39 months and 80 heterozygotes were diagnosed (52 AS, 19 AT and 9 AC). Another 1003 persons related to these heterozygotes were examined and a total of 432 heterozygotes were diagnosed (241 AS, 140 AT and 51 AC), added to 13 patients with chronic hemolytic anemia (8 SS, 3 SC, 1 TT and 1 CC) and 16 risk couples, made up of two heterozygotes. The examination percentages of pregnant women (100%), newly born children (75%), other children (97%), husbands (56%) and other relatives (64%) showed the high rate of acceptance of the program in the community. Genetic counselling was accepted by 60% of the heterozygotes over 15 years of age.
Keywords: genetics health; public health; Brazilian population; hemoglobinopathy.
REFERENCES
Anionwu, E.N., Patel, N., Kanji, G., Renges, H. and Brozovics, M. (1988). Counseling for prenatal diagnosis of sickle cell disease and beta-thalassemia major: a four year experience. J. Med. Genet. 25: 769-772.
Bowman, J. (1991). Prenatal screening for hemoglobinopathies. Am. J. Hum. Genet. 48: 433-438.
CREMESP - Conselho Regional de Medicina do Estado de São Paulo (1988). Código de Ética Médica, São Paulo, pp. 11-12.
Granda, H., Gispert, S., Dorticos, A., Martin, M., Cuadras, Y., Calvo, M., Martinez, G., Zayas, M.A., Oliva, J.A. and Heredero, L. (1991). Cuban programme for prevention of sickle cell disease. Lancet 337: 152-153.
IBGE - Instituto Brasileiro de Geografia e Estatística (1992). Censo Demográfico -1991, Rio de Janeiro, RJ, pp. 75.
Kessler, S. (1989). Psychological aspects of genetic counseling. A critical review of literature dealing with education and reproduction. Am. J. Med. Genet. 34: 340-353.
Loader, S., Sutera, C.J., Segelman, S.G., Kozyra, A. and Rowley, P.T. (1991). Prenatal hemoglobinopathy screening. IV - Follow-up of women at risk for a child with a clinically significant hemoglobinopathy. Am. J. Hum. Genet. 49: 1292-1299.
Loukopoulos, D. (1985). Prenatal diagnosis of thalassemia and of the hemoglobinopathies: a review. Hemoglobin 9: 435-459.
Naoum, P.C., Alvarez Filho, F., Domingos, C.R.C., Ferrari, F., Moreira, H.W., Sampaio, Z.A., Maziero, P.A. and Castilho, E.M. (1987). Hemoglobinas anormais no Brasil. Prevalência e distribuição geográfica. Rev. Bras. Patol. Clin. 23: 68-79.
OPS - Organización Panamericana de la Salud (1987). Ejecución de acciones de salud en genética. Informe de un Comité de Expertos en Genética Médica. Habana, Cuba, 9-12 Noviembre, 1987, pp. 1-15.
Penchaszadeh, V. (1993). Genetics Services for Hemoglobinopathies in Latin-America. Joint WHO/Tif Meeting on Prevention and Control of Hemoglobinopathies. Nicosia, Cyprus, 3-4 April, 1993, M. 5-7.
Ramalho, A.S. (1986). As Hemoglobinopatias Hereditárias Um Problema de Saúde Pública no Brasil. Ed. Soc. Bras. Genet., Ribeirão Preto, pp. 41-98.
Ramalho, A.S., Martins, C.S.B. and Paiva e Silva, R.B. (1992). Aspectos Médicos do Aconselhamento Genético, com Especial Ênfase às Hemoglobinopatias Hereditárias. Publicação avulsa do Departamento de Genética Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, Campinas, SP, pp. 10-13.
Rowley, P.T., Loader, S., Sutera, C.J., Walder, M. and Kozyra, A. (1991). Prenatal screening for hemoglobinopathies. I - A prospective regional trial. Am. J. Hum. Genet. 48: 439-446.
Salzano, F.M. and Tondo, C.V. (1982). Hemoglobin types in Brazilian population. Hemoglobin 6: 85-97.
Scriver, C.R., Bardanes, M., Cartier, L., Clow, C.L., Lancaster, G.A. and Ostrowsky, J.T. (1984). Beta thalassemia disease prevention: genetic medicine applied. Am. J. Hum. Genet. 36: 1024-1038.
Tentori, L. and Marinucci, M. (1983). Hemoglobinopathies and thalassemias in Italy and Northern Africa. In: Distribution and Evolution of Hemoglobina nd Globin loci (Bowman, J., ed.). Elsevier, N. York, pp. 120.
TWAS - Third World Academy of Sciences (1986). Final Report: South-North Round Table on Hemoglobinopathies. Trieste, 1986, pp. 1-10.
Vichinsky, E., Hurst, D., Earles, A., Kleman, K. and Lubin, B. (1988). Newborn screening for sickle cell disease: Effect on mortality. Pediatrics 81: 749-755.
WHO (1983). Community control of hereditary anaemias. Memorandum from a WHO meeting. Bull. World Health Organiz. 61: 63-80.
Wong, W., Poars, D.R., Chan, L., Hiti, A., Johnson, C. and Overturf, G. (1992). Polysaccharide encapsulated bacterial infection in sickle cell anemia: A thirty years epidemologic experience. Am. J. Hematol. 39: 176-182.
Zago, M.A. and Costa, F.F. (1985). Hereditary haemoglobin disorders in Brazil. Trans. Royal Soc. Trop. Med. Hyg. 79: 385-388.