ArticleOrphanet journal of rare diseases2025
Genetic self-counselors in Tunisia: the role of health education in hemoglobinopathies prevention among high school students.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Negotiating genetic risk in Indonesia: Development and psychometric evaluation of the knowledge and attitude toward consanguineous marriage instrument in a mixed-methods cross-sectional study.Journal of community genetics · 2026Article
- Health literacy and prenatal screening acceptability for hemoglobinopathies in Tunisia: a pilot mediation study.Journal of community genetics · 2026Article
- Mutation Spectrum of Hemoglobinopathies in Tunisia.Human mutation · 2026Article
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5 authors.
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Abstract
backgroundIn Tunisia, the primary prevention of hemoglobinopathies relies on behavioral changes related to screening and genetic counseling. The progression in cognitive and functional literacy in human genetics serves as a crucial aspect of this transformation. In this study, we consider the possibility of genetic self-counseling, checking it in students with scientific or literary backgrounds.
methodsTo assess potential for genetic self-counseling applied to sickle cell disease (SCD), we designed a questionnaire on SCD knowledge (SCDKA), then recruited 356 students (200 scientific students vs. 165 literary students). Since and there were no previous standards for classifying students according to their SCDKA score, we considered participants with an SCDKA score ≥ 70% correct answers as having a high literacy level. Statistical analysis of the results was carried out using chi-square tests and Fisher's, to compare the demographic and educational characteristics of the participants.
resultsThe analysis of responses to the various SCDKA items shows a lack of awareness about the hereditary origin of hemoglobinopathies. 97.8% of respondents did not recognize electrophoresis as a diagnostic technique. In terms of genetic literacy, the autosomal and recessive nature of hemoglobinopathies is not well understood. This explains why 41% and 74% of these students could not answer items on genetic transmission. The perception of controllability of hereditary diseases is higher among science students, as is the intention to inform their partner before procreation (56.5% vs. 24.35%, p < 0.001). Responses reveal that science section respondents have higher proactive preventive intentions compared to literature section students, as they recognize the usefulness of genetic counseling (75.5% vs. 47.43%, p < 0.001), premarital diagnosis (57.5% vs. 18.59%, p < 0.001), and prenatal diagnosis (61.5% vs. 13.46%, p < 0.001).
conclusionCurrently, levels of health literacy and functional genetic literacy do not ensure genetic self-counseling for hemoglobinopathies prevention. The survey shows that having a scientific background was an advantage, but a detailed analysis of these students' results reveals average to low SCDKA scores.
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