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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 Marriage patterns in Sri Lanka and the role of consanguinity in thalassaemia: A cross sectional descriptive analysis(Sri Lanka Medical Association, 2019) Goonatilleke, M.D.D.C.; de Silva, S.T.; Rodrigo, R.; Perera, S.; Goonathilaka, G.W.M.R.G.B.; Ramees, L.; Mettananda, S.; Weatherall, D.L.; Premawardhena, A.P.INTRODUCTION & OBJECTIVES: Consanguineous marriages play an important role in the propagation of thalassaemia. There is a paucity of data on consanguineous marriages in modern Sri Lankan society and its effect on thalassaemia births. We studied sociological aspects of Sri Lankan marriages with emphasis on consanguinity, and the prevalence of consanguinity in the parents of patients with thalassaemia. METHODS: Three marriage registrars from each district were asked to record details about the partners of all marriages they registered for 6 months, from July 2009. Parents of patients with thalassemia were interviewed separately, to identify any consanguinity. RESULTS: A total of 5249 marriages were recorded from 22 districts. Average age at marriage was 27.2 9 years for males and 24.0 8 years for females. 3737/5249 (71.2%) of all marriages were Love Marriages, except in the Moor community where 89.2% were Arranged Marriages. Female literacy and education tier levels were higher than in males. Overall national consanguinity rate was 6.4% (337/5249). It was highest among Tamils (20.4%), but only 3.3% among Sinhalese and 3.1% among Moors. In the parents of 405 patients with thalassaemia, overall consanguinity rate was 11.1% (45/405): it was highest among Tamils (33.3%) and lowest among Sinhalese (9.4%). CONCLUSION: Consanguinity among patients with Thalassaemia was almost double the national average. Though not the dominant cause, more emphasis should be given to consanguinity when conducting thalassaemia prevention campaigns. Since they are older and better educated at marriage, female partners should be better targeted in such health education campaigns.Item Micro-mapping of common α+ thalassaemia deletions (3.7 kb, 4.2 kb) in Sri Lanka and assessment of the contribution of α thalassaemia to hypochromic microcytosis(Faculty of Medicine, University of Kelaniya, Sri Lanka, 2016) Premawardhena, A.P.Alpha thalassaemia is one of the most common haemoglobinopathies, but the exact prevalence and distribution of α thalassaemia in Sri Lanka is not well known. This study was an attempt to micro-map the distribution of the common α thalassaemia deletions in Sri Lanka and to assess its contribution to hypochromic microcytosis in the community. A national survey on haemoglobin disorders was carried out between 2009 and 2010, covering all 25 districts. A total of 7539 school children, 300 from each district were screened for haemoglobin disorders and anaemia. 3.7 kb and 4.2 kb common α+ deletional forms were analysed using PCR in 2038 individuals with hypochromic microcytic anaemia and 1305 individuals with non-anaemia individuals, representing all districts. The overall prevalence of α-thalassaemia was 9.5%, and 3.7 kb was the commonest deletion (8.3%) while the 4.2 kb deletion accounted for 1.2%. The prevalence of α-thalassaemia showed a remarkable variability within districts, ranging from 16.3% in Kurunegala to 3.0% in Galle. Contrary to common belief, it was found that α-thalassaemia due to single gene deletions was almost always associated with hypochromic microcytic anaemia.Item Parental awareness and cascade screening of thalassaemia(Sri Lanka Medical Association, 2010) Nishad, A.A.N.; Premawardhena, A.P.INTRODUCTION: A strategy to prevent new births with thalassaemia major in countries where abortion is illegal is to screen the at risk population for the carrier state and advocating "safe marriages". One of the highest risk groups for the thalassaemia gene are relatives of individuals with a child with 'thalassaemia major'. 'Cascade screening' of such relatives is an effective way to initiate and precede a much wider population screen. We wanted to identify the level of awareness of disease transmission and the extent to which cascade screening was already happening in Sri Lanka. METHODS: A self-administered questionnaire was used on 100 parents of children with transfusion dependent thalassaemia attending the thalassaemia units at Ragama and Kurunegala from 1st January to 31st December 2009. RESULTS: 73% fathers and 91% mothers knew their carrier state and 59 (64.1%) fathers and 98 (88.1%) mothers knew their carrier state bad caused the illness to the child. Mothers had 382 and fathers had 291 siblings. Those siblings had 714 and 610 children respectively. 40 (10.8%) of maternal siblings and 15 (5%) of the paternal siblings had been screened for thalassaemia. Only 48 (6.72%) of maternal side children and 23 (3.77%) of paternal side children had been screened. CONCLUSION: Screening of relatives of patients with thalassaemia in this group of people seems to be limited. A screening programme targeting those at high risk is necessary.Item Pulmonary arterial hypertension in thalassaemia patients- does splenectomy and disease severity increase the risk?(Sri Lanka Medical Association, 2011) Premawardana, N.P.; Nandasiri, A.S.D.; Ranaweera, A.G.R.M.A.; Nishad, A.A.N.; Silva, D.P.S.I.; Premawardhena, A.P.INTRODUCTION AND OBJECTIVES: Pulmonary arterial hypertension (PAH) has been described in patients with thalassaemia. A causative association with splenectomy has been postulated. Our previous observations differed from this. We aimed to study these factors in our patients. METHODS: Pulmonary artery pressure (PAP) and other data of thaiassaemics attending the Thalassaemia Unit, Ragarna were studied using clinic records. PAP was measured using trans-thoracic 2D echocardiography. Four categories were separately analysed: thalassaemia major (TM) with splenectomy (A) and without (B), thalassaemia intermedia (TI) with splenectomy (C) and without (D). PAH was defined as PAP over 25 mm Hg. RESULTS: A total of 74 patients were studied, 60 (81%) with TM and 14 (19%) with TI. 25 of TMs (41%) and 10 of TIs (71%) had splenectomy (p <0.05). Mean ages (SD) of TM and TI were 20.71(8.4) and 32.6 (13.3) years respectively. Those of categories ABCD were 20.9 (7.4), 20.7 (9.1), 27 (9.6) and 46 (12.3) years. A total of 16 (21.6%) of all patients had PAH (95% CI13.8-32.3). This included 13 (21.7%) TM patients and three (21.4%) with TI (p-0.98). The prevalence of PAH was 17.1% (95 CI 8.4-33.5) in splenectomised thalassaemia patients and 25.6% (95% CI 16.5-43.8) in non splenectomised patients (p= 0.37), and in categories A,B,C,D were 16%, 23%, 20% and 25% respectively. Mean of PAP of splenectomised with PAH is 39 mmHg (SD=4.5) and in non splenectomised with PAH was 34.9 mmHg (SD=5.3) (p=0.8). CONCLUSIONS: PAH is a significant complication in patients with thalassaemia. However the severity of disease nor the splenectomy status were found to be causatively linked in our study.