ArticleJournal of community genetics2010
A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka.
Article in Journal of community genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Prevalence and determinants of anaemia in South Asian diaspora women residing in Hong Kong: An exploratory cross-sectional study.Journal of migration and health · 2025Article
- A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment.AIMS public health · 2024Review
- Thalassemia, biobanking infrastructures, and personalized stem cell therapies in Chennai.Frontiers in sociology · 2023Article
- Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family.Journal of clinical pathology · 2022Article
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- The scenario of knowledge, attitude and practice of the Bangladeshi population towards thalassemia prevention: A nationwide study.PLOS global public health · 2022Article
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- A Southeast Asian Perspective on the COVID-19 Pandemic: Hemoglobin E (HbE)-Trait Confers Resistance Against COVID-19.Medical science monitor basic research · 2021Article
- Haemoglobinopathies in India: estimates of blood requirements and treatment costs for the decade 2017-2026.Journal of community genetics · 2020Article
- Article
- Thalassemias in South Asia: clinical lessons learnt from Bangladesh.Orphanet journal of rare diseases · 2017Review
- Epidemiology of Transfusion Transmitted Infection among Patients with β-Thalassaemia Major in Pakistan.Journal of blood transfusion · 2016Article
- Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis.Mediterranean journal of hematology and infectious diseases · 2013Article
- Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population.Hematology reports · 2012Article
- Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.International journal of hematology · 2012Article
- Assessing the influence of consanguinity on congenital heart disease.Annals of pediatric cardiology · 2011Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India. The present study updates and expands an earlier profile of β-thalassaemia mutations in India, and incorporates comparable data from Pakistan and Sri Lanka. Despite limited data availability, clear patterns of historical and cultural population movements were observed relating to major β-thalassaemia mutations. The current regional mutation profiles of β-thalassaemia have been influenced by historical migrations into and from the Indian sub-continent, by the development and effects of Hindu, Buddhist, Muslim and Sikh religious traditions, and by the major mid-twentieth century population translocations that followed the Partition of India in 1947. Given the resultant genetic complexity revealed by the populations of India, Pakistan and Sri Lanka, to ensure optimum diagnostic efficiency and the delivery of appropriate care, it is important that screening and counselling programmes for β-thalassaemia mutations recognise the underlying patterns of population sub-division throughout the region.
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Registered trials
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