Sinhalese Family with Haemoglobin S

Silva, C. C. De; Bulugahapitiya, D T; Silva, Justin De; Wickremasinghe, R. L.; Jonxis, J. H. P.

doi:10.1136/bmj.1.5291.1519

Cited by 8 publications

(5 citation statements)

References 2 publications

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“…Sri Lanka, a tropical island of approximately 19 million people, has a population comprised of Sinhalese (74%), Tamils (18%), Moors (7%) and several minor groups including a small number of the original island occupants, the Veddahs. Since 1951, there have been sporadic reports of the occurrence of thalassaemia and haemoglobin variants, including haemoglobin E, in most populations (de Silva & Weeratunge, 1951; Graff et al , 1954; Lehmann, 1956; Nagaratnam et al , 1958; de Silva et al , 1962; Nagaratnam & Sukumaran, 1967; Parameshwaran, 1967; Blackwell et al , 1974; Ellepola et al , 1980; Nagaratnam, 1989). In 1996, we began to assess the potential future health burden that thalassaemia might pose for Sri Lanka, and to attempt to better understand the natural history and clinical heterogeneity of haemoglobin E thalassaemia in this population.…”

Section: Prospective Studies Of Haemoglobin E Thalassaemia In Sri Lankamentioning

confidence: 99%

Studies in haemoglobin E beta‐thalassaemia

et al. 2008

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SummaryHaemoglobin E b-thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for its clinical diversity, or its optimal management. Despite its frequency, haemoglobin E b-thalassaemia is often managed in an illdefined and haphazard way, usually by demand transfusion. We studied a cohort of Sri Lankan patients with haemoglobin E b-thalassaemia over 5 years, and identified several genetic and environmental factors possibly contributing to the phenotypic diversity of the disorder. These included modifiers of haemoglobin F production, malaria and age-related changes in adaptation to anaemia. Our findings suggest that in many patients, haemoglobin E b-thalassaemia can be managed without transfusion, even with low haemoglobin levels. Agerelated changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored.

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Section: Prospective Studies Of Haemoglobin E Thalassaemia In Sri Lankamentioning

confidence: 99%

Studies in haemoglobin E beta‐thalassaemia

et al. 2008

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“…Sickle haemoglobin (Hb S) was first reported in the country among Sinhalese in 1962 in the Eastern province of the country [3]. Even though Sri Lanka is geographically adjacent to India, where the prevalence of Hb S is high, particularly among tribal populations, the prevalence of Hb S in Sri Lanka is lower and is confined mainly to coastal areas [4].…”

Section: Introductionmentioning

confidence: 99%

Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity

Darshana

Bandara

Nawarathne

et al. 2020

Orphanet J Rare Dis

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Background: Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of this "rare" group of patients. Results: All accessible Sickle cell disease patients, totaling 60, including, 51 Sickle β-thalassaemia and 9 homozygous sickle patients were enrolled from seven thalassaemia treatment centres between December 2016-March 2019. The majority of patients were of Sinhalese ethnicity (n = 52, 86.67%). Geographically, two prominent clusters were identified and the distribution of Sickle haemoglobin in the island contrasted markedly with the other haemoglobinopathies. 3/ 9 homozygous sickle patients and 3/ 51 Sickle β-thalassaemia patients were receiving regular transfusion. Joint pain was the commonest clinical symptom among all sickle cell disease patients (n = 39, 65.0%). Dactylitis was significantly more common in homozygous sickle patients compared with the Sickle β-thalassaemia groups (p 0.027). Two genetic backgrounds sickle mutation were identified namely, Arab Indian and Benin. Among the regulators of Foetal hemoglobin in Sickle patients of the present study rs1427407 G > T seemed to be the most prominent modifier, with a significant association with Foetal haemoglobin levels (p 0.04). Conclusions: Overall, the clinical course of the Asian version of Sickle cell disease in Sri Lanka appears to be milder than that described in India.

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“…Sri Lanka is a tropical island with a population of approximately 19 million, comprised of Sinhalese (74%), Tamils (18%), Moors (7%) and several minor groups, including a small number of the original island occupants, the Veddahs. Starting in 1951, there have been sporadic reports of the occurrence of thalassaemia and haemoglobin variants in the Sri Lankan population (de Silva & Weeratunge, 1951; Graff et al , 1954; Lehmann, 1956; Nagaratnam et al , 1958; de Silva et al , 1962; Nagaratnam & Sukumaran, 1967; Parameshwaran, 1967; Blackwell et al , 1974; Ellepola et al , 1980; Nagaratnam, 1989). Over recent years, increasing numbers of patients have attended hospitals in Sri Lanka with severe forms of thalassaemia, particularly in the Kurunegala District, and the disease is posing an increasingly important public health problem for the Island.…”

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confidence: 99%

The molecular basis for the thalassaemias in Sri Lanka

et al. 2003

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Summary. The b-globin gene mutations and the a-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four b-globin gene mutations were identified, three accounting for 84AE5% of the 1240 alleles studied: IVSI-5 (G fi C) 56AE2%; IVSI-1 (G fi A) 15AE2%; and haemoglobin E (codon (CD)26 GAG fi GAA) 13AE1%. Three new mutations were found; a 13-bp deletion removing the last nucleotide in CD6 to CD10 inclusively, IVSI-129 (A fi C) in the consensus splice site, and a frame shift, CD55 (-A). The allele frequency of a + thalassaemia was 6AE5% and 1AE1% for -a 3AE7 and -a 4AE2 deletions respectively. Non-deletion a-thalassaemia was not observed. Triplicate or quadruplicate a-globin genes were unusually common. In 1AE5% of cases it was impossible to identify b-thalassaemia alleles, but in Kurunegala detailed family studies led to an explanation for the severe thalassaemia phenotype in every case, including a previously unreported instance of homozygosity for a quadruplicated a-globin gene together with b-thalassaemia trait. These findings have implications for the control of thalassaemia in high-frequency populations with complex ethnic histories.

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Sinhalese Family with Haemoglobin S

Cited by 8 publications

References 2 publications

Studies in haemoglobin E beta‐thalassaemia

Studies in haemoglobin E beta‐thalassaemia

Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity

The molecular basis for the thalassaemias in Sri Lanka

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