Browsing by Author "de Silva, T.U.N."

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    Genetic origin and clinical variability of sickle cell disease in Sri Lanka
    (Sri Lanka Medical Association, 2018) Darshana, L.G.T.; Bandara, W.D.M.S.; Nawaratna, U.S.B.; Costa, Y. J.; Nizri, A.H.M.; Silva, D.P.S. l.; de Silva, T.U.N.; Pushpakumara, K.P.C.; Pathirage, S.P.; Manamperi, A.; Premawardhena, A.P.
    INTRODUCTION AND OBJECTIVES: Sickle cell disease (SCD) is found at a low prevalence In Sri Lanka. A recent hospital based survey identified 60 patients in the country The clinical spectrum of SCD in Sri Lanka has not been studied and its genetic origin remains unknown.We envisaged to study the genetic origin and to carry out a clinical description ofSCD in Sri Lankan patients. METHODS: Patients were recruited from Ragama, Anuradhapura Hambantota and Kurunegala thalassaemia centres. All patients were examined and clinical details recorded. Genetic analyses were performed to identify the haplotype of HbS, Xmn I polymorphism gene deletions and mutations. RESULTS: A total of 49 SCD patients were studied Ages ranged from 5 - 47 years (mean 20.4) 91.8% of the patients were Sinhalese and the rest were Muslims. 87.7% of the patients had sickle-thalassaemia (SBT) and 6 were homozygous (HbSS) Joint pains were the commonest symptom in patients with SBT Clinical presentations in SBT varied from those with none to frequent crises Clinical management varied with only 42.86% of patients being on hydroxyurea. Most patients had not inherited disease ameliorating genetic factors with 95 9% not having gene deletions and 89 8% not having Hb F up-regulators Three Sickle haplotypes were identified including; Arab• Indian, Benin and Bantu.CONCLUSION: There appears to be at-least three genetic origins of HbS in Sri Lanka SCD is extremely clinically variable in Sri Lanka. The reason for this variation needs further study as most patients seem not to have common inherited modifiers
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    An islandwide hospital based epidemiological survey of haemoglobinopathies and an assessment of standards of care in 23 centres
    (Sri Lanka Medical Association, 2017) Premawardhena, A.P.; Mudiyanse, R.M.; Jifri, M.N.; Nelumdeniya, U.B.P.; Silva, D.P.S.I.; Nizri, A.H.M.; Rajiyah, M.O.F.; de Silva, T.U.N.; Pushpakumara, K.R.C.; Dissanayake, D.M.R.; Jansz, M.; Rifaya, M.I.; Navarathne, N.M.U.S.B.; Arambepola, W.W.M.M.; Thirukumaran, V.; Mendis, D.; Weerasekara, K.P.; de Silva, N.N.; Vaidyanatha, U.S.de.S.; Mettananda, D.S.G.; Oliveri, N.F.; Weatherall, D.J.
    INTRODUCTION & OBJECTIVES: There is no database for haemoglobinopathy patients in Sri Lanka resulting in imprecise knowledge about the distribution and standards of care among patients managed in different centres in the island. The prevention programme commenced in 2007 is not centrally monitored. METHODS: We carried out centre-wise visitation and data gathering of patients with haemoglobinopathies in 2015. 23 centres were visited by researchers who gathered information from patient records. RESULTS: Data was obtained of 1768 patients. Three centres had over 200 patients each and another three centres had between 50-100 patients. There were 8 centres with less than 10 patients each. Beta thalassaemia major (BTM) accounted for 1207 (68.26%) patients. There were 363 patients (20.53%) with Haemoglobin E-β thalassaemia. Sickle cell-β thalassaemia accounted for 51 patients (2.88%). The mean age of BTM patients was 13 years (range 2-44). Ethnic distribution of the haemoglobinopathies (82.5% Sinhalese, 12% Muslims and 5.2% in Tamils) was discrepant to the national ethnic data. Islandwide mean number of new births of all thalassaemics recorded showed a reduction from 66/year between 2004 - 2009 to 48/year between 2010 to 2015.Clinical record keeping was not systematic in most units thus complication rates were hard to obtain. Death data were available only in two units. CONCLUSION: This study identified significant inconsistencies in haemoglobinopathy care between centres. Existence of small centres needs to be recognized by the Ministry of Health. A reducing trend of new births over the last decade was observed.
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    Quality of life and psychological morbidity among children with transfusion dependent thalassaemia and their parents
    (Sri Lanka Medical Association, 2018) Mettananda, S.; Pathiraja, H.; Peiris, R.; Bandara, D.; de Silva, T.U.N.; Mettananda, K.C.D.; Premawardhena, A.
    INTRODUCTION AND OBJECTIVES: Thalassaemia is a chronic illness which requires life-long supportive care. We aim to describe quality of life and psychological morbidity among children with transfusion-dependent thalassaemia and their parents.METHODS: This case-control study was conducted from September to December 2017. All patients with transfusion-dependent thalassaemia aged 2-18 years attending three largest thalassemia centers of Sri Lanka (Kurunegala, Anuradhapura and Ragama) were recruited as cases Children without chronic diseases admitting to same hospitals for acute non-life threatening illnesses were recruited as controls. Data were collected using an interviewer-administered questionnaire with validated questionnaires to measure quality of life (PedsQL 4.0 Generic core scales) and psychological morbidity (Strengths and difficulties questionnaire) of children and depressive symptoms of parents (Centre for epidemiological studies depression scale). Ethical approval was obtained from Ethics Committee of University of Kelaniya. RESULTS: 321 (male-46.4%; mean age-9 9±4 2years) cases and 194 (male-47.4% mean age- 8.9±3 7years) controls were recruited Mean quality of life score was significantly lower in cases (72.6±12.0%) compared to controls (88.6±11.6%), (p<0 001) Prevalence of psychological issues were significantly higher among patients with thalassaemia compared to controls in emotional (17 6% vs 0%; 2=32.8, p<0 001), conduct (18.6% vs 0 6%;2=35.4, p<0 001), hyperactive (9 5% vs 0%; 2=18 9 p<0.001) and peer relationship (14.4% vs 2 5%; 2=15 7 p<0 001) domains Significantly higher proportion of mothers of cases reported depressive symptoms compared to controls (40 1% vs 8.9%; 2=57 0 p<0.001).CONCLUSION: Patients with transfusion-dependent thalassaemia experience a poor quality of life and are victims of psychological and behavioural problems compared to their peers. Similarly, mothers of children with thalassaemia have higher prevalence of depression Psychological support should be an essential component in management of thalassaemia