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.
O lúpus eritematoso sistêmico (LES) é uma doença tipicamente multigênica e multifatorial, com grande complexidade clínica e fisiopatológica. As causas do LES não são totalmente conhecidas, mas sabe-se que fatores ambientais e genéticos estão envolvidos. Dentre as várias manifestações clínicas observadas em pacientes com LES, as anemias chamam a atenção principalmente quando se observa nesse estudo uma prevalência de 52,5% dos pacientes com índices hematimétricos sugestivos de anemias. Embora a anemia geralmente já seja observada em pacientes com LES, estudos sobre a prevalência de anemias hereditárias, especialmente as hemoglobinopatias na população com LES, não têm sido conduzidos. O objetivo desse trabalho foi o de avaliar a prevalência das hemoglobinopatias e talassemia em pacientes portadores de LES. Para isso, foram estudadas 80 amostras de sangue de pacientes portadores de lúpus atendidos no ambulatório do Hospital das Clínicas de Goiânia. Foram utilizados testes laboratoriais não moleculares para a detecção das hemoglobinopatias. A freqüência das alterações da hemoglobina foi de 10,0%, encontradas em oito pacientes. Dessas alterações, a mais prevalente foi a talassemia alfa, encontrada em quatro pacientes, correspondendo a uma freqüência de 5,0% da população estudada. Depois, foi o heterozigoto para a hemoglobina S, encontrada em dois pacientes, correspondendo a 2,5% da população, e também outro heterozigoto para a hemoglobina C, encontrada em um paciente, correspondendo a 1,25%, e um paciente com beta talassemia menor, correspondendo a 1,25%. Nenhum caso de homozigose foi encontrado no presente estudo. Este trabalho demonstrou que não houve diferença na prevalência dos distúrbios da hemoglobina entre a população em geral e os portadores de LES. Rev. bras.
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.
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