Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations

Silva, S. de; Fisher, Christopher A.; Premawardhena, Anuja; Lamabadusuriya, Sanath P; Peto, Tim; Perera, G.; Old, John; Clegg, J. B.; Olivieri, Nancy F.; Weatherall, D. J.

doi:10.1016/s0140-6736(99)08246-x

Cited by 148 publications

(114 citation statements)

References 6 publications

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“…Many genotypes previously considered to be uncommon in North America 3 are diagnosed increasingly in many screening programs because of dramatic population shifts of affected populations to North America. Understanding the phenotypic expression of these syndromes, many of which are not well characterized even in their countries of origin, 10 will be essential for optimizing treatment for North American patients in the new millennium.…”

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confidence: 99%

Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease

Vichinsky¹,

et al. 2005

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ABSTRACT. Objective. Changing patterns of immigration to North America, along with improved treatment, have altered the clinical spectrum of thalassemia, one of the world's most common genetic diseases. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Characterization of the new spectrum of this ancient disease, now predominated by minority groups, is essential for optimizing survival.Methods. The National Institutes of Health-sponsored North American Thalassemia Clinical Research Network (TCRN) conducted a cross-sectional study of 721 patients with thalassemia syndromes. A detailed chart review was undertaken to define the relationships between ethnic origins, genotype, and phenotype. These results were compared with 3 previous surveys of similar regions. To determine if the TCRN patient epidemiology is representative of North American patients, 87 additional programs were reviewed, and hemoglobinopathy programs from the 2 largest thalassemia regions, Ontario and California, were analyzed.Results. A total of 721 patients completed analysis in the TCRN study, including 389 (54%) patients with ␤-thalassemia major, 105 (15%) patients with ␤-thalassemia intermedia, 95 (13%) patients with hemoglobin E-␤-thalassemia, and 132 (18%) patients with ␣-thalassemia. ␤-Thalassemia predominated in Eastern North America. Hemoglobin E-␤-thalassemia and ␣-thalassemia were common on the Western continent. Genotype broadly correlated with the clinical phenotype. However, there was marked heterogeneity in clinical phenotype among patients with similar globin mutations. In ␤-thalassemia disorders, coinheritance of the ␣-thalassemia trait, triplication of ␣-thalassemia genes, and heterozygosity for the dominant ␤-thalassemia allele affected the clinical phenotype. In ␣-thalassemia disorders, structural mutations such as hemoglobin H-Constant Spring resulted in a severe hemoglobin H phenotype. Sixty percent of patients received regular transfusions, and 86% received regular iron-chelation therapy. Increased survival and decreasing birth rates of Mediterranean patients resulted in an aging Greek/Italian population being replaced by a young Asian/Middle Eastern population. Now, Asian patients account for >50% of the thalassemia population. Evidence of increasing survival is reflected in an advancing mean age of white patients with thalassemia major (25 years, up from 11 years in 1974). The results of the non-TCRN thalassemia survey confirm these observations and describe a young multiethnic thalassemia population distributed throughout North America. Newborn-screening results suggest that thalassemia births in North America are increasing and reflect the change in genotype and phenotype observed in the TCRN populations.Conclusions.

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confidence: 99%

Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease

Vichinsky¹,

et al. 2005

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“…In a study published in 2000, it was estimated that there were approximately 2000 transfusion dependent beta thalassaemia and HbE patients in Sri Lanka and the expenditure on them accounted for approximately 5% of the recurrent health budget of the country [1]. This number has by and large remained static over the past decade.…”

Section: Correspondencementioning

confidence: 99%

“…However, with haplo-identical transplants becoming popular worldwide and the experience in finding the right combination of drugs used for conditioning and GVHD prophylaxis increasing, it is expected that all patients could potentially have BMT in the near future with acceptable survival. We read with interest the article by Wijayarathna et al offering retrograde ureteric stenting (RUS) as the urinary drainage of first choice to all patients with recurrent malignancies in the pelvic cavity causing malignant ureteric obstruction (MUO) [1]. The authors knew that most of these patients had exhausted the primary modalities of treatment of their respective malignancies and regrettably, they still performed 'palliative' urinary diversion routinely.…”

Section: Correspondencementioning

confidence: 99%

Allogeneic bone marrow transplant in a child with thalassaemia

Gooneratne¹,

Dissanayake²,

Jayawardena³

et al. 2015

Ceylon Med. J.

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“…Even though a higher prevalence is reported in three provinces where malaria has been rampant in the past, carriers who amount to 2.2% of the population are distributed all over the country [3]. At least 80-100 thalassaemia babies are born to the birth cohort of 300 000 babies every year giving an annual incidence of 0.03%.…”

Section: Introductionmentioning

confidence: 98%

Safe Marriage for Thalassaemia Prevention; the Need for Public Health Education

Mudiyanse¹

2015

J Gen Pract

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Thalassaemia instigates an enormous health problem all over the world, due to the palliative nature of life long treatment and the cost involved. The available preventive strategies are not simple and not universally acceptable. The concept of "safe marriage" proposed for thalassaemia prevention in Sri Lanka recommends to ensure that one partner in a couple be a non-carrier. Thereby the option of screening at least one of the partners becomes the minimal essential requirement for a safe marriage. The process of screening, counselling and decision on selecting partners is voluntary and health education programmes only promote this. However to establish such a practice in society, the wide spread practice of screening and counselling should be established. Stringent monitoring to evaluate and take remedial action in the programme would also be essential.

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Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations

Cited by 148 publications

References 6 publications

Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease

Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease

Allogeneic bone marrow transplant in a child with thalassaemia

Safe Marriage for Thalassaemia Prevention; the Need for Public Health Education

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