ABSTRACT
Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it. .
Objetivo: Identificar programas de asesoramiento genético sin incentivo al aborto terapéutico para individuos con alteraciones de las hemoglobinas y/o sus familiares. Método: Revisión sistemática de literatura realizada en las bases de datos PubMed, LILACS, SciELO y SCOPUS por artículos publicados de 2001 a 2012, utilizando descriptores en portugués, inglés y español, según formularios estandarizados que abarcaban criterios de inclusión y exclusión. Resultados: De los 409 estudios encontrados solo ocho (1,9%) fueron seleccionados. Conclusión: Los programas de educación/prevención para hemoglobinopatías, aunque rara vez encontrados en la literatura, son posibles y permiten que los individuos adquieran conocimiento acerca de las consecuencias de su disturbio y la probabilidad de trasmitirlo.
Objetivo Identificar programas de aconselhamento genético sem incentivo ao aborto terapêutico para indivíduos com alterações das hemoglobinas e/ou seus familiares. Método Revisão sistemática de literatura realizada nas bases de dados PubMed, LILACS, SciELO e SCOPUS por artigos publicados de 2001 a 2012, utilizando descritores em português, inglês e espanhol, de acordo com formulários padronizados contendo critérios de inclusão e exclusão. Resultados Dos 409 estudos encontrados somente oito (1,9%) foram selecionados. Conclusão Os programas de educação/prevenção para hemoglobinopatias, embora raramente encontrados na literatura, são possíveis e permitem que indivíduos adquiram conhecimento sobre as consequências de seu distúrbio e a probabilidade de transmití-lo. .
Subject(s)
Humans , Family Health , Genetic Counseling , Hemoglobinopathies/geneticsABSTRACT
BACKGROUND: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorders. OBJETIVE: The objective of the current study was to evaluate the effectiveness of educational and preventive measures for hemoglobinopathies using genetic guidance and laboratory screening of families. METHODS: The diagnoses of patients with hemoglobinopathies were confirmed and then the level of knowledge about their disease was evaluated and genetic guidance was provided. Three months later, the level of assimilated information of these patients was evaluated. In addition, laboratory diagnosis of family members was carried out. RESULTS: Diagnosis of sickle cell anemia was confirmed for most patients. Moreover, the majority of the patients who had a low level of knowledge before genetic guidance (68.8%) demonstrated a higher level of assimilated information after the process (81.8%). Almost 70% of the family members had hemoglobin changes and some had hemoglobinopathies (2.6%). They were duly informed about the results of the examinations, which made it possible to investigate further. CONCLUSION: Genetic guidance and family screening were effective preventive and educational measures that improved the quality of life of patients, preventing complications and sequels and allowed the referral of those who may transmit altered genes for clinical diagnosis and to genetic counseling services.