Dataset Information

Nationwide carrier detection and molecular characterization of ?-thalassemia and hemoglobin E variants in Bangladeshi population.

ABSTRACT: BACKGROUND:ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood transfusion and the available treatment options are unsatisfactory. A national policy on thalassemia prevention is mandatory in Bangladesh. However, precise and up-to-date information on the frequency of ß-thalassemia carriers are missing due to lack of accurate diagnostic approaches, limited access to information and absence of national screening program. This study aims to determine the nationwide carrier frequency of hemoglobin E (HbE) and ?- thalassemia and mutation spectrum among the carriers using molecular, hematological and biochemical methods. METHODS:The study enrolled a total of 1877 individuals (60.1% male and 39.9% female) aged between 18 and 35?years. Total sample size and its division-wise breakdown were calculated in proportion to national and division-wise population. Venous blood was collected and subjected to CBC analysis and Hb-electrophoresis for each participant. Serum ferritin was measured to detect coexistence of iron deficiency anemia with thalassemia carrier. DNA-based High Resolution Melting (HRM) curve analysis was performed for confirmation of carrier status by mutation detection. RESULTS:Of 11.89% (95% CI, 10.43-13.35) carriers of ?-globin gene mutations, 8.68% (95% CI, 7.41-9.95) had HbE trait (ETT) and 2.24% (95% CI, 1.57-2.91) had beta-thalassemia trait (BTT). Among eight divisions, Rangpur had the highest carrier frequency of 27.1% (ETT-25%, BTT-2.1%), whereas Khulna had the lowest frequency of 4.2% (ETT-4.2% only). Moreover, ?- thalassemia, HbD trait, HbE disease, hereditary persistence of HbF were detected in 0.11, 0.16, 0.43 and 0.16% participants, respectively. HRM could identify two individuals with reported pathogenic mutations in both alleles who were erroneously interpreted as carriers by hematological indices. Finally, a total of nine different mutations including a novel mutation (c.151A?>?G) were detected in the ?-globin gene. CONCLUSIONS:Since carrier frequency for both HbE and ?-thalassemia is alarmingly high in Bangladesh, a nationwide awareness and prevention program should be made mandatory to halt the current deteriorating situations. Mutation-based confirmation is highly recommended for the inconclusive cases with conventional carrier screening methods to avoid any faulty detection of thalassemia carriers.

SUBMITTER: Noor FA

PROVIDER: S-EPMC6961315 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Noor Farjana Akther FA Sultana Nusrat N Bhuyan Golam Sarower GS Islam Md Tarikul MT Hossain Mohabbat M Sarker Suprovath Kumar SK Islam Khaleda K Khan Waqar Ahmed WA Rahman Mujahida M Qadri Syeda Kashfi SK Shekhar Hossain Uddin HU Qadri Firdausi F Qadri Syed Saleheen SS Mannoor Kaiissar K

Orphanet journal of rare diseases 20200115 1

<h4>Background</h4>ß-thalassemia is one of the most common inherited blood disorders in the world and a major deterrent to the public health of Bangladesh. The management of thalassemia patients requires lifelong frequent blood transfusion and the available treatment options are unsatisfactory. A national policy on thalassemia prevention is mandatory in Bangladesh. However, precise and up-to-date information on the frequency of ß-thalassemia carriers are missing due to lack of accurate diagnosti ...[more]

PMID: 31941534

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Project description: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.

Project description:OBJECTIVE:This study aimed to report prevalence and evaluate the association between multimorbidity and associated risk factors in the adult population of Bangladesh. DESIGN:A cross-sectional study was conducted using a multistage clustered random sampling strategy. SETTING:The study was conducted among the general population of 58 districts in Bangladesh. PARTICIPANTS:A total of 12?338 male and female individuals aged ?35 were included for analysis in this study. Identified through a household listing conducted prior to the study, from 15?297 individuals meeting the inclusion criteria, 12?338 participants were included based on availability during data collection, consent and health condition. OUTCOME MEASURES:Multimorbidity in terms of hypertension, diabetes, cancer, cardiovascular diseases, stroke and chronic obstructive pulmonary disease. RESULTS:Approximately 8.4% (95%?CI 7.0 to 9.7) of individuals suffer from multimorbidity, of which hypertension accounted for (30.1%) followed by diabetes (10.6%). The mean age of the population was 58.6 (SD ±9.2) years. The prevalence of multimorbidity was lower among men (7.7%) compared with women (8.9%). The likelihood of having multimorbidity among obese individuals were more than double than people with normal body mass index (BMI). Physical activity protected individuals from developing multimorbidity: however, the physical activity adjusted OR was 0.5 (95% CI 0.2 to 1.2). After adjusting for all covariates, higher age, higher educational status, economic status, and higher BMI were found to be significantly associated with the odds of developing multimorbidity, with an overall adjusted OR of 0.02 (95% CI 0.01 to 0.02). CONCLUSION:This study reported a high prevalence of multimorbidity in Bangladesh, although it explored the burden and identified risk factors considering only six chronic diseases. Further detailed exploration through longitudinal studies considering a wider range of diseases is needed to document the actual burden, develop effective preventive measures and clinical guidelines to improve the quality of life of the population.

Dataset Information

Nationwide carrier detection and molecular characterization of ?-thalassemia and hemoglobin E variants in Bangladeshi population.

Publications

Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

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