A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

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dc.creatorVilela, Tatiana Dela-Sávia Ferreira
dc.creatorFreire, Adriana Sousa
dc.creatorLacerda, Elisângela de Paula Silveira
dc.creatorGarcía-Zapata, Marco Túlio Antônio
dc.date.accessioned2018-08-30T10:37:08Z
dc.date.available2018-08-30T10:37:08Z
dc.date.issued2012
dc.description.abstractBackground: 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.pt_BR
dc.identifier.citationFERREIRA, Tatiana Dela-Sávia; FREIRE, Adriana Sousa; SILVEIRA-LACERDA, Elisângela de Paula; GARCÍA-ZAPATA, Marco Túlio Antônio. A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures. Revista Brasileira de Hematologia e Hemoterapia, São Paulo, v. 34, n. 5, p. 339-344, 2012.pt_BR
dc.identifier.doi10.5581/1516-8484.20120089 
dc.identifier.issn1516-8484
dc.identifier.issne- 1806-0870
dc.identifier.urihttp://repositorio.bc.ufg.br/handle/ri/15777
dc.language.isoengpt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentInstituto de Ciências Biológicas - ICB (RG)pt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectGenetic counselingpt_BR
dc.subjectQuality of lifept_BR
dc.subjectHemoglobinopathies/diagnosispt_BR
dc.subjectPrimary preventionpt_BR
dc.titleA model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measurespt_BR
dc.typeArtigopt_BR

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