Medicine

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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty

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    Efficacy and safety of oral hydroxyurea in transfusion-dependent β-thalassaemia: a protocol for randomised double-blind controlled clinical trial
    (BMJ Publishing Group Ltd., 2020) Yasara, N.; Wickramarathne, N.; Mettananda, C.; Manamperi, A.; Premawardhena, A.; Mettananda, S.
    INTRODUCTION: Despite being one of the first diseases to be genetically characterised, β-thalassaemia remains a disorder without a cure in a majority of patients. Most patients with β-thalassaemia receive only supportive treatment and therefore have a poor quality of life and shorter life spans. Hydroxyurea, which has shown to induce fetal haemoglobin synthesis in human erythroid cells, is currently recommended for the treatment of sickle cell disease. However, its clinical usefulness in transfusion-dependent β-thalassaemia is unclear. Here, we present a protocol for a randomised double-blind controlled clinical trial to evaluate the efficacy and safety of oral hydroxyurea in transfusion-dependent β-thalassaemia. METHODS AND ANALYSIS: This single-centre randomised double-blind placebo-controlled clinical trial is conducted at the Thalassaemia Centre of Colombo North Teaching Hospital, Ragama, Sri Lanka. Adult and adolescent patients with haematologically and genetically confirmed transfusion-dependent β-thalassaemia are enrolled and randomised into the intervention or control group. The intervention group receives oral hydroxyurea 10-20 mg/kg daily for 6 months, while the control group receives a placebo which is identical in size, shape and colour to hydroxyurea without its active ingredient. Transfused blood volume, pretransfusion haemoglobin level, fetal haemoglobin percentage and adverse effects of treatment are monitored during treatment and 6 months post-treatment. Cessation or reduction of blood transfusions during the treatment period will be the primary outcome measure. The statistical analysis will be based on intention to treat. ETHICS AND DISSEMINATION: Ethical approval has been obtained from the Ethics Committee of Faculty of Medicine, University of Kelaniya (P/116/05/2018) and the trial is approved by the National Medicinal Regulatory Authority of Sri Lanka. Results of the trial will be disseminated in scientific publications in reputed journals.
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    A Cost-of-illness analysis of β-Thalassaemia major in children in Sri Lanka - experience from a tertiary level teaching hospital.
    (BioMed Central., 2020) Reed-Embleton, H.; Arambepola, S.; Dixon, S.; Maldonado, B. N.; Premawardhena, A.; Arambepola, M.; Khan, J. A. M.; Allen, S.
    BACKGROUND: Sri Lanka has a high prevalence of β-thalassaemia major. Clinical management is complex and long-term and includes regular blood transfusion and iron chelation therapy. The economic burden of β-thalassaemia for the Sri Lankan healthcare system and households is currently unknown. METHODS: A prevalence-based, cost-of-illness study was conducted on the Thalassaemia Unit, Department of Paediatrics, Kandy Teaching Hospital, Sri Lanka. Data were collected from clinical records, consultations with the head of the blood bank and a consultant paediatrician directly involved with the care of patients, alongside structured interviews with families to gather data on the personal costs incurred such as those for travel. RESULTS: Thirty-four children aged 2-17 years with transfusion dependent thalassaemia major and their parent/guardian were included in the study. The total average cost per patient year to the hospital was $US 2601 of which $US 2092 were direct costs and $US 509 were overhead costs. Mean household expenditure was $US 206 per year with food and transport per transfusion ($US 7.57 and $US 4.26 respectively) being the highest cost items. Nine (26.5%) families experienced catastrophic levels of healthcare expenditure (> 10% of income) in the care of their affected child. The poorest households were the most likely to experience such levels of expenditure. CONCLUSIONS: β-thalassaemia major poses a significant economic burden on health services and the families of affected children in Sri Lanka. Greater support is needed for the high proportion of families that suffer catastrophic out-of-pocket costs. KEYWORDS: Children; Cost-of-illness; Sri Lanka; Thalassaemia.
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    Marriage patterns in Sri Lanka and the prevalence of parental consanguinity in patients with β-thalassaemia: a cross-sectional descriptive analysis
    (Cambridge University Press, 2020) Premawardhena, A.P.; de Silva, S.T.; Goonatilleke, M.D.D.C.; Ediriweera, D.S.; Mettananda, S.; Rodrigo, B.K.R.P.; Allen, A.; Weatherall, D.J.
    Consanguineous marriages potentially play an important role in the transmission of β-thalassaemia in many communities. This study aimed to determine the rate and socio-demographic associations of consanguineous marriages and to assess the influence on the prevalence of β-thalassaemia in Sri Lanka. Three marriage registrars from each district of Sri Lanka were randomly selected to prospectively collect data on all couples who registered their marriage during a 6-month period starting 1st July 2009. Separately, the parents of patients with β-thalassaemia were interviewed to identify consanguinity. A total of 5255 marriages were recorded from 22 districts. The average age at marriage was 27.3 (±6.1) years for males and 24.1 (±5.7) years for females. A majority (71%) of marriages were 'love' marriages, except in the Moor community where 84% were 'arranged' marriages. Overall, the national consanguinity rate was 7.4%. It was significantly higher among ethnic Tamils (22.4%) compared with Sinhalese (3.8%) and Moors (3.2%) (p < 0.001). Consanguinity rates were also higher in 'arranged' as opposed to 'love' marriages (11.7% vs 5.6%, p < 0.001). In patients with β-thalassaemia, the overall consanguinity rate was 14.5%; it was highest among Tamils (44%) and lowest among Sinhalese (12%). Parental consanguinity among patients with β-thalassaemia was double the national average. Although consanguinity is not the major factor in the transmission of the disease in the country, emphasis should be given to this significant practice when conducting β-thalassaemia prevention and awareness campaigns, especially in high-prevalence communities.
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    Correlation of genotype with phenotype in beta thalassaemia intermedia in Sri lanka
    (Thalassaemia International Federation, 2015) Perera, P.S.; Silva, D.P.S.I.; Hapugoda, M.; Wickramarathne, M.N.; Wijesiriwardena, I.; Efremov, D.G.; Fisher, C.A.; Weatherall, D.J.; Premawardhena, A.
    Abstract Available
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    The Thal-index with the BTT prediction.exe to discriminate ß-thalassaemia traits from other microcytic anaemias
    (Pagepress, Italy, 2012) Nishad, A.A.N.; Pathmeswaran, A.; Wickremasinghe, A.R.; Premawardhena, A.
    Several attempts have been made previously to differentiate -thalassaemia trait (BTT) from other microcytic anaemias using formulae with red cell (RC) parameters. Presently available formulae have low sensitivity and specificity. We wanted to develop a more precise algorithm, which could be used in situations where the gold-standard test for thalassaemia diagnosis: the high performance liquid chromatography (HPLC) is not available. The study was carried out prospectively from November 2008 to March 2010 from randomly collected blood samples with a mean cell volume (MCV) of less than 80 fL. HbA2 measured by HPLC was used to diagnose BTT. We used Fishers stepwise linear discriminant function analysis to develop an algorithm with RC parameters. Calculated new index Thal-index was then subjected to receiver operating characteristic curve analysis to identify best cutoff to discriminate BTT from other microcytic blood films. Software was developed to predict the BTT status (BTT prediction.exe). New index, referred to as the Thal-index, was calculated using discriminant function analysis and is given as Thal-index=[(0.615MCV) +(0.518mean corpuscular hemoglobin)+ (0.446red cell distribution width)]. A value of 59 for Thal-index has 90% sensitivity and 85% specificity for differentiating BTT from other microcytic anaemias. This showed better sensitivity and specificity compared to other formulae presently used (i.e., Mentzer in Eshani, et al.). Our study gives a better answer to set-up where HPLC is not available. Although this cannot replace HPLC, BTT prediction.exe is useful to predict instantly and is the first ever computer program available for this function
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