Burden of thalassemia in India: The road map for control

Colah, Roshan; Italia, Khushnooma; Gorakshakar, Ajit

doi:10.1016/j.phoj.2017.10.002

Cited by 122 publications

(81 citation statements)

References 24 publications

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“…Although situated in the world's thalassaemia belt, the epidemiology and natural history of thalassaemia in Bangladesh are poorly documented [4]. Unlike, other South Asian countries (India, Pakistan, Sri Lanka and Maldives), there are no organized national programs in Bangladesh for raising awareness, screening carriers or managing patients with thalassaemia [13][14][15][16][17]. PND is not widely offered in Bangladesh, and there are uncertainties about the acceptability of termination of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study

Hossain

Hasan

Raheem

et al. 2020

Orphanet J Rare Dis

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Background: Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selecting effective prevention strategies. This study attempted to assess knowledge and perceptions about thalassaemia among college students in Bangladesh. Methods: A supervised cross-sectional survey was conducted on 1578 college students using a self-administered structured questionnaire. The survey took place from 15 February 2018 to 17 March 2018 in the Jamalpur district in Bangladesh. Besides the attitude-related questions, the study asked a total of 12 knowledge-related questions, which were scored on a scale of 0-12 points. Results: Over two-thirds (67%) of the college students had never heard of thalassaemia. The urban-rural dichotomy was observed among those familiar with the term; (46.4% from urban vs. 25.8% from rural colleges). A similar pattern was observed for knowledge score; 5.07 ± 1.87 for students from the urban colleges compared to 3.69 ± 2.23 for rural colleges. Students from the science background had the highest knowledge score (5.03 ± 1.85), while those from arts and humanities background scored lowest (3.66 ± 2.3). Nearly 40% of the students were not sure or did not want to be a friend of a thalassaemia patient. Whereas 39% either declined or remained hesitant about helping thalassaemia patients by donating blood. However, most of the respondents (88%) showed a positive attitude towards 'premarital' screening to prevent thalassaemia. Conclusions: This study has identified critical knowledge gaps and societal misperceptions about thalassaemia. A better understanding of these aspects will be pivotal for disseminating thalassaemia related information. As the first study of this kind in Bangladesh, findings from this study has generated baseline data that would contribute to developing effective intervention strategies in Bangladesh and other countries with a comparable socio-cultural setting.

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Section: Introductionmentioning

confidence: 99%

Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study

Hossain

Hasan

Raheem

et al. 2020

Orphanet J Rare Dis

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“…Resear-chers noted that having TM increases the patients' knowledge of the disease and motivates them to learn more [20]. In contrast, other studies approve the poor TM knowledge among Iranian and Indian patients and the lack of proper education to promote their understanding of TM [21,22]. Patients with TM in the current study had poor knowledge about TM risk factors, blood transfusion as treatment, and complications such as jaundice.…”

Section: Discussionmentioning

confidence: 69%

Disease Knowledge and Treatment Adherence among Adult Patients with Thalassemia: A Cross-sectional Correlational Study

Alnaami

Wazqar

2019

Pielegniarstwo XXI Wieku / Nursing in the 21st Century

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Aim. To investigate the disease knowledge and treatment adherence among adult patients with thalassemia.Material and methods. A cross-sectional correlational study was carried out with a convenience sample of 100 adult patients with thalassemia from a university teaching hospital in Jeddah city, Saudi Arabia. The Disease Knowledge about Thalassemia Major, the Treatment Adherence Scale, and sociodemographic survey were completed by participants. The data were analyzed using Statistical Package for the Social Sciences version 22. Descriptive and inferential statistics and Pearson correlations were performed.Results. The participants had a moderate level of disease knowledge (M = 15.59, SD = 2.30) and a low level of treatment adherence (M = 3.91, SD = 1.83). There was also a weak but significant positive relationship between disease knowledge and treatment adherence (r = 0.297, P = 0.041). A significant difference in treatment adherence mean scores was found among participants with different monthly incomes (P = 0.05).Conclusions. Knowledge gained from this study may be useful in improving nurses’ understanding of the effects of providing practical knowledge on treatment adherence. Educational strategies/interventions programs may be required to improve knowledge and adherence to treatment among thalassemia patients. Longitudinal studies are also needed to test for moderators and mediators of relationships of disease knowledge and treatment adherence.

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“…The study was designed to determine the carrier frequency of single gene disorders other than β-thalassemia for which has a carrier frequency of about 3-4 % has been shown in many studies in India [52]. Disorders such as spinal muscular atrophy (SMA), fragile X syndrome (FXS) and Duchenne muscular dystrophy (DMD) are common in all populations including South Asians were also excluded as these are di cult to detect with NGS [53].…”

Section: Discussionmentioning

confidence: 99%

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

Singh¹,

Bijarnia-Mahay²,

Ramprasad

et al. 2020

Preprint

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Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary.Results: Of the 200 participants, 52 (26 %) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West. Conclusion: A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.

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Burden of thalassemia in India: The road map for control

Cited by 122 publications

References 24 publications

Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study

Lack of knowledge and misperceptions about thalassaemia among college students in Bangladesh: a cross-sectional baseline study

Disease Knowledge and Treatment Adherence among Adult Patients with Thalassemia: A Cross-sectional Correlational Study

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

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