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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Redesigning new policy options for thalassemia prevention in Sri Lanka(Multidisciplinary Digital Publishing Institute, 2022) Amarasinghe, N.; Amarasena, A.; Thabrew, A.; Werawatte, P.; Premawardhena, A.; Malik, F.; Abusayeed, M.; Wickramasinghe, C.Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. We set about to examine the cost-effectiveness of novel policy options for thalassemia prevention in Sri Lanka. METHODS: The current cost for treatment of a thalassemia major patient (USD 2602/yr) was compared against the cost per reduction of single birth with three novel strategies, namely intensifying the screening in the current five districts combined with an education program (policy option 1), a nationwide screening program (policy option 2), and antenatal screening combined with the termination of pregnancy (policy option 3). The incremental cost-effectiveness ratio (ICER) of the different strategies was calculated. RESULTS: The status quo was considered to reduce one TM birth whilst the new policy options were able to reduce births by 14, 35, and 48, respectively. The costs incurred for the program for a year for status quo and the three novel programs were USD 104,788, 173,884, 781,372, and 904,186 respectively. Cost per prevention of a thalassemia major birth was USD 87,324, 12,420, 22,324, and 20,084, respectively. The lifetime cost per treatment of a thalassemia major patient was USD 34,653. CONCLUSIONS: Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births.Item Devising a cure for β-thalassaemia by targeting α-globin(The Sri Lanka College of Haematologists, 2019) Mettananda, S.ABSTRACT: β-Thalassaemia is a disorder of haemoglobin synthesis which does not have an effective cure for a majority of patients affected. Most patients have poor quality of life and die prematurely. The basic pathophysiology of β-thalassaemia is haemolysis and ineffective erythropoiesis due to the imbalance of α-globin chains in red blood cells. Studies done on the molecular pathology and naturally occurring mutations among patients have conclusively shown that decreasing the synthesis of a-globin chains ameliorates the severity of anaemia in β-thalassaemia. A series of recent in vitro and animal studies described in this paper shows that therapeutic inhibition of α-globin synthesis is feasible through genome editing of its major enhancer and pharmacological disruption of epigenetic enzymes. These novel pathways would invariably pave the way for an effective cure for β-thalassaemia which will be available for all patients in the future.Item Non-adherence to chelation therapy and associated psychosocial factors among transfusion-dependent thalassaemia patients in Kandy, Sri Lanka(Sri Lanka College of Paediatricians, 2021) Baminiwatta, A.; Gunathilake, R.; Arambepola, S.; Arambepola, M.BACKGROUND: Poor adherence to iron chelation may underlie the detrimental levels of iron overload previously reported among transfusion-dependent thalassaemia (TDT) patients in Sri Lanka. Given the many challenges faced by these patients and families, psychosocial factors may have a significant impact on medication adherence. OBJECTIVE: To assess chelation adherence among TDT patients and explore associated psychosocial factors. METHOD: TDT patients, aged over 4 years, admitted for blood transfusion to a tertiary care hospital, as well as their mothers, were recruited. Medication adherence was assessed using a questionnaire adapted from Brief Adherence Rating Scale. Serum ferritin (SF) values were recorded as objective measures of non-adherence. Mental health status of patients and their mothers was assessed using Strengths and Difficulties Questionnaire (SDQ) and General Health Questionnaire-30 (GHQ) respectively. Associated psychosocial factors were analysed using multiple linear regression. RESULTS: Fifty-two patients aged 4 to 28 years participated. Thirty-four (65%) were female. The average adherence rate was 90%. One fifth of patients had an adherence percentage less than 80%. The mean ferritin level was 3260 ng/ml, whereas 46.2% of patients had SF levels exceeding 2500ng/ml. SF levels correlated positively with non-adherence (r=0.34, 95%CI: 0.071-0.606, p=0.014). Based on multivariate analysis, increasing age and lower SDQ score of patient, lower educational level and greater GHQ-30 score of mother were independent predictors of higher SF levels, but not of adherence rates. CONCLUSIONS: In the paediatric unit of National Hospital, Kandy, 46% of patients had SF levels >2500 ng/ml. There was a significant correlation between SF levels and medication non-adherence (r=0.34, p=0.014). On multivariate analysis, increasing age and lower SDQ score of the patient, lower educational level and greater GHQ-30 score of the mother were independent predictors of higher SF levels, but not of adherence rates.Item A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report(BioMed Central, 2021) Arunath, V.; Hoole, T. J.; Rathnasri, A.; Muthukumarana, O.; Kumarasiri, I.M.; Liyanage, N.D.; Costa, Y.; Mettananda, S.BACKGROUND: Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12 deficiency and proteinuria. CASE PRESENTATION: A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B12 and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic 'inverted V sign'. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B12 deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin. CONCLUSIONS: This case report presents a rare occurrence of severe vitamin B12 deficiency due to Imerslund-Gräsbeck syndrome masked by co-existent α-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies. KEYWORDS: Anaemia; Hypopigmented hair; Imerslund-Gräsbeck syndrome; Inverted V sign; Megaloblastic changes; Subacute combined degeneration of the spinal cord; Thalassaemia; Vitamin B12.Item Recent developments in the treatment of transfusion dependent thalassaemia(The Sri Lanka Medical Association, 2020) Mettananda, S.No Abstract availableItem Improving standards of care for children with thalassaemia in Sri Lanka(Sri Lanka College of Paediatricians, 2020) Mettananda, S.No abstract available