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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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 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 Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity(BioMed Central., 2020) Darshana, T.; Bandara, D.; Nawarathne, U.; de Silva, U.; Costa, Y.; Pushpakumara, K.; Pathirage, S.; Basnayake, S.; Epa, C.; Dilrukshi, P.; Wijayawardena, M.; Anthony, A. A.; Rodrigo, R.; Manamperi, A.; Smith, F.; Allen, A.; Menzel, S.; Rees, D.; Premawardhena, A.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. KEYWORDS: Clinical; Genetic; Severity; Sickle cell; Sri Lanka.Item Microcytic anemia in children: Parallel screening for iron deficiency and Thalassemia provides a useful opportunity for Thalassemia prevention in low- and middle-income countries(Hemisphere Pub. Corp., 2020) Mettananda, S.; Paranamana, S.; Fernando, R.; Suranjan, M.; Rodrigo, R.; Perera, L.; Vipulaguna, T.; Fernando, P.; Fernando, M.; Dayanath, B.K.T.P.; Costa, Y.; Premawardhena, A.ABSTRACT:Microcytic anemia in children is commonly attributed to iron deficiency without attempting to find the cause. Inadequate investigations to exclude hemoglobinopathies lead to missed opportunities for identification of thalassemia carriers. Here we aim to describe the relative contribution of iron deficiency and thalassemia to microcytic anemia in children. This hospital-based prospective study was conducted at the Colombo North Teaching Hospital, Ragama, Sri Lanka. All newly diagnosed patients with microcytic anemia were recruited and data were collected using an interviewer-administered questionnaire. Full blood count, blood film, serum ferritin, c-reactive protein, quantification of hemoglobin sub-types and α-globin genotype were performed using 4 ml of venous blood. A total of 104 children (Male- 60.5%) were recruited. Iron deficiency was the cause for anemia in 49% whilst 16% and 10% had α- and β-thalassemia trait respectively. Seven (6.7%) children had co-existing iron deficiency and thalassemia trait while two coinherited α- and β-thalassemia trait. Children with β-thalassemia trait had significantly higher red cell count and lower mean corpuscular volume compared to children with iron deficiency. However, none of the red cell parameters were significantly different between children with α-thalassemia trait and iron deficiency. Iron deficiency contributes only to half of children with microcytic anemia; one-fourth had thalassemia trait. Co-existence of iron deficiency and thalassemia trait or co-inheritance of α- and β-thalassemia trait were found in 9%. Parallel investigation of children with microcytic anemia to diagnose iron deficiency and thalassemia provides an opportunity to identify thalassemia carriers which is beneficial for thalassemia prevention.Item Rational use of FFP at North Colombo Teaching Hospital: An audit(Sri Lanka Medical Association, 2018) Sutharsiny, Y.; Darshani, W. M. N.; Moratuwagama, H. M. D.; Costa, Y.; Williams, H. S. A.; Kularatne, W. M. M .T.INTRODUCTION & OBJECTIVES: The British Committee for Standards in Haematology (BCSH) provides guidelines for use of fresh frozen plasma (FFP). Inappropriate use and non-compliance with guidelines for FFP have been reported.This audit is to reinforce guidelines and avoid inappropriate use. The objectives are to check - l.The indications ofFFP use 2.Calculation of dose according to weight of patient 3.Checking of coagulation (PT/APTT) before and after FFP METHODS: Data was collected from blood bank requests for 4 months. Details were collected from a questionnaire from patients and BHTs following transfusion.RESULTS: Of 50 patients, 11 were neonates and 4 children. Indications were liver disease with abnormal coagulation (40%), DIC and severe sepsis (20%), liver disease with normal coagulation awaiting surgery (10%), and massive bleeding (8%). 14% of neonates required FFP for resuscitation and to treat sepsis.Though weight was measured in 41(82%), adequate dose was administered to 14 (28%), overestimated in 26%, and underestimated in 28%. Pre and post transfusion coagulation was done in 33 (66%) and 17 (34%) respectively. Seven (14%) had coagulation tests within 3 hours. None of the patients had informed consent, risks and benefits informed prior to transfusion. CONCLUSION: All FFP is used according to guidelines. Documentation of volume of FFP used requires improvement as ambiguity of ml or units. Each unit of FFP varies· from 180ml - 230ml. Requirement of post transfusion coagualation within 3 hours is to be emphasized. Requirement of informed consent prior to transfusion of blood products is stressed.Item Microcytic anaemia in children: Do we really know the cause?(Sri Lanka Medical Association, 2018) Paranamanna, S.; Fernando, V. R.; Suranjan, P. D. M.; Rodrigo, R.; Perera, L.; Vipulanayake, U. K. T.; Fernando, A. G. L. N. P.; Fernando, A.M.; Costa, Y.; Dayanath, D.K.T.P.; Premawardhena, A.; Mettananda, S.INTRODUCTION & OBJECTIVES: Microcytic anaemia is common among children and is often attributed to iron deficiency. Other causes are given less priority. We aimed to describe the aetiology of microcytic anaemia among children aged between 6-59 months.METHODS: A descriptive study was conducted at Teaching Hospital, Ragama from March 2016 to February 2017. All newly diagnosed patients with microcytic anaemia (haemoglobin <11 g/dL and mean corpuscular volume <80 Fl) were recruited. Data was collected using an interviewer-administered questionnaire and 5ml of venous blood was obtained for full blood count, serum ferritin, capillary electrophoresis and alpha-globin genotype during a period free from any acute illness. A therapeutic trial with oral iron (6mg/kg/day) was given to all children and response was assessed after one month. Ethical approval was obtained from Ethics Committee of University of Kelaniya and data were analysed using SPSS. RESULTS: Sixty-six children (male-54.5%; mean age-20.5±13.9 months) were recruited. Severity of anaemia was mild-38%, moderate-61% and severe- I%. Reported clinical features were: irritability (26%), loss of appetite (6%), fatigue (5%), pica (3%), brittle hair (26%), dry skin (23%), angular stomatitis (2%) and glossitis (2%). Aetiologically, 28 (42.4%) had iron deficiency (ferritinlg/dl after 1 month) was observed in 27 (40 9%).CONCLUSION: Less than half of children with microcytic anaemia had low serum ferritin and only 41 % of children demonstrated a response to a trial of oral iron Thalassaemia trait, especially alpha-thalassaemia is an important cause for microcytic anaemia in asymptomatic children.