ABSTRACT
@#Genetic literacy is an adequate knowledge that personally involves someone to comprehend and actively participate in genetic issues. An individual’s genetic literacy level will influence their decisiveness and attitudes towards reoccurring genetic issues, including genetic screening. This research aimed to discover the relation between genetic literacy levels and genetic screening attitudes of medical students in Indonesia. The data were collected using a cluster sampling method composing of 492 students from 41 universities in Indonesia. Subjects filled the questionnaires, which have underwent validity and reliability test using online modality under local supervisors. Genetic literacy levels were divided into two categories: adequate (>50%) and inadequate (<50%) levels, whereas the genetic screening attitude was categorized into consent and dissent. Of 492 respondents, only 121 people (24.59%) have adequate genetic literacy levels. The study also reports that 262 respondents (60.16%) agreed to the use of genetic screening. Using regression logistic, study found there was no relationship between genetic literacy and attitudes (p>0.05). Disagreements about using genetic screening are more prevalent among female respondents rather than male respondents. The study showed no relationship between genetic literacy levels and genetic screening attitudes of medical students in Indonesia.
ABSTRACT
Objective/background: Thalassemia is a monogenic hematologic disease that has the highest prevalence globally. In addition, there is complexity of the genetic background associated with a variety of phenotypes presented among patients. Genetic heterogeneity related to fetal hemoglobin [HbF] production has been reported as an influencing phenotypic factor of beta-thalassemia [beta-thal]. Therefore, this study aimed to find the effect of these genetic modifiers, especially in the XmnI locus, rs11886868, rs766432 [BCL11A], and rs9399137 [HBS1L-MYB], among beta-thal and HbE/beta-thal patients in Indonesia, according to laboratory and clinical outcomes, including HbF levels and clinical scores. This study was also designed to compare these modifying effects among beta-thal and HbE/beta-thal patients in Indonesia
Methods: A total of 189 patients with genotyping of beta-thal and HbE/beta-thal were included in this study. The erythrocytes index and Hb electrophoresis measurements were calculated using appropriate methods. The severity of beta-thal and HbE/beta-thal was classified based on the Mahidol score. Polymorphism of the XmnI locus, rs11886868, rs766432 [BCL11A], and rs9399137 [HBS1L-MYB] was determined using polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] and amplification refractory mutation system [ARMS] methods
Results: The distributions of minor allele in the XmnI locus, rs11886868, rs766432, and rs9399137 were 14%, 22%, 19% and 18% respectively. The variation allele in the XmnI locus, rs11886868, and rs766432 showed a significant value for modifying HbF and clinical score in HbE/beta-thal patients, but rs9399137 did not demonstrate such features. In beta-thal patients, however, no correlation was found for any single-nucleotide polymorphisms and clinical appearance
Conclusion: The XmnI locus, rs11886868, and rs766432 have a modifying effect on HbF and clinical score in HbE/beta-thal patients in Indonesia, but not in beta-thal patients