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Thalassemia is one of the most common life-threatening yet preventable congenital hemoglobin disorders especially in South Asian regions like Bangladesh. It has become a rising public health concern for Bangladesh as 6–12% of the population are carriers and many of them are unaware of it. The purpose of the study is to inspect the knowledge and attitude towards thalassemia among the general people of Bangladesh. A cross-sectional survey was conducted in eight administrative regions of Bangladesh between January and October of 2020. A structured questionnaire was designed to collect information about thalassemia and socio-demographic characteristics. Multivariate logistic regression models were used to identify factors associated with knowledge of thalassemia. A p-value <0.05 was considered significant. Of the 1,248 participants, only 47.4% had heard of thalassemia. Half of the participants who heard about the disease had no idea that thalassemia was not a transfusion transmitted disease. Only 49.8% of participant correctly identified consanguineous marriages as an important risk factor. Majority of them knew that marriage between two carriers can lead to a child with thalassemia major. About 72.5% knew that blood tests are a diagnosis method to determine thalassemia. Among the socio-demographic variables, the level of education of the respondents was identified as an independent predictor for knowledge (p<0.05) on thalassemia. For example, graduate (aOR: 24.88; 95% CI: 6.238–99.232) or post-graduate (aOR: 33.18; 95% CI: 7.864–140.001) participants were more aware of thalassemia than non-graduates. However, about 68.2% of the participants showed a positive attitude towards premarital screening of themselves or their family members and 85.3% were willing to donate blood to thalassemia patients. The study shows that there is a need to disseminate the information on thalassemia since the knowledge gap is huge among people. These findings will strengthen the implementation of thalassemia major awareness through educational programs, health counseling, premarital screening and campaigning.

Background: Thalassemia is one of the most common life-threatening yet preventable congenital hemoglobin disorders especially in South Asian regions like Bangladesh. It has become a rising public health concern for Bangladesh as 6-12% of the population are carriers and many of them are unaware of it. The purpose of the study is to inspect the knowledge and attitude towards thalassemia among the general people of Bangladesh. Methods: A cross-sectional survey was conducted in eight administrative regions of Bangladesh between January and October of 2020. A self-administrative close-ended questionnaire was designed to collect information about thalassemia and socio-demographic characteristics. Pearson’s chi-square (χ2) test and One-way ANOVA were performed to assess the association between the demographic variables with knowledge and practice regarding thalassemia. A p-value <0.05 was considered significant.Results: Of the 1623 participants, only 44.7% (726/1623) had heard of thalassemia. The mean knowledge of thalassemia was scored 4.75 ± 2.05 out of a total possible score of 10. Half of the participants had no idea that thalassemia was not a transfusion transmitted disease. About 73.1% knew that blood tests are a diagnosis process to determine thalassemia. The urban residing participants had the highest (5.10 ± 1.99) and participants with primary education had the lowest (3.38 ± 1.37) mean score of knowledge. Participants' knowledge score varied significantly by marital status, living pace, literacy and occupation (p< 0.05). However, about 68.2% and 85.5% of the participants showed a positive attitude towards premarital screening of themselves or their family members and donating blood to thalassemia patients, respectively. Conclusion: The study shows that there is a need to disseminate the information on thalassemia since the knowledge gap is huge among people. These findings will assist the implementation of significant steps such as educational programs, health counseling, premarital screening, campaigning, etc. to increase the awareness of thalassemia.

POLD1 (DNA polymerase delta 1, catalytic subunit) is a protein-coding gene that encodes the large catalytic subunit (POLD1/p125) of the DNA polymerase delta (Polδ) complex. The consequence of missense or nonsynonymous SNPs (nsSNPs), which occur in the coding region of a specific gene, is the replacement of single amino acid. It may also change the structure, stability, and/or functions of the protein. Mutation in the POLD1 gene is associated with autosomal dominant predisposition to colonic adenomatous polyps, colon cancer, endometrial cancer (EDMC), breast cancer, and brain tumors. These de novo mutations in the POLD1 gene also result in autosomal dominant MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy). In this study, genetic variations of POLD1 which may affect the structure and/or function were analyzed using different types of bioinformatics tools. A total of 17038 nsSNPs for POLD1 were collected from the NCBI database, among which 1317 were missense variants. Out of all missense nsSNPs, 28 were found to be deleterious functionally and structurally. Among these deleterious nsSNPs, 23 showed a conservation scale of >5, 2 were predicted to be associated with binding site formation, and one acted as a posttranslational modification site. All of them were involved in coil, extracellular structures, or helix formation, and some cause the change in size, charge, and hydrophobicity.

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