Browsing by Author "Jayasekara, R."

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    Frequency of Hereditary Hemochromatosis Gene (HFE) variants in Sri Lankan transfusion-dependent beta-thalassemia patients and their association with the serum ferritin level
    (Frontiers Media, 2022) Padeniya, P.; Goonasekara, H.; Abeysekera, G.; Jayasekara, R.; Dissanayake, V.
    Introduction: Co-inheritance of hereditary hemochromatosis (HFE) gene variants p. C282Y and p.H63D worsen iron overload in transfusion-dependent thalassemia. Data on the HFE gene variants in Sri Lankan patients with thalassemia have not been extensively studied. This study aimed to analyze the p.C282Y and p.H63D variants in transfusion-dependent beta (β) and HbE/β-thalassemia patients and establish an association between these variants and their serum ferritin levels. Materials and methods: A total of 125 transfusion-dependent β-thalassemia major and HbE/β thalassemia patients were tested for the c.845G>A (p.C282Y) and c.187C>G (p.H63D) HFE gene variants using the multiplex Amplification Refractory Mutation System Polymerase Chain Reaction method. For phenotype-genotype correlation, serum ferritin levels, the erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) levels were measured. The standard descriptive statistics were used for data analysis. Results: The study cohort consisted of transfusion-dependent 123 β-thalassemia and 2 HbE/β-thalassemia patients. The p.C282Y variant was not detected in any patient; allele frequency for the wild type (c.845GG) was 100%. Twenty-three patients were heterozygous for the p.H63D variant allele, and the allele frequencies were c.187CC 91.8%, c.187CG 9.2%, and c.187GG 0%. The mean serum ferritin level was relatively higher (mean level 4,987 ng/ml) in the p.H63D heterozygous (c.187CG) group compared to the wild type (c.187CC) group (mean level 4,571 ng/ml), but the difference was statistically not significant (p = 0.865). Among the total study population, CRP, ESR, and serum glutamine aspartate transaminase (SGPT) were elevated in 9 (7.2%), 65 (52%), and 82 (65.6%) patients, respectively. Among the p.H63D c.187CG group, elevated CRP, ESR, and SGPT were present in 5 (5%), 15 (12%), and 18 (14.4%) patients, respectively. The detected sample number was low to correlate with the confounding effect of inflammatory disorders and liver damage on the serum ferritin levels. Conclusions: The HFE gene variant p.C282Y is unlikely to cause iron overload in the Asian β-thalassemia patients; the rarity of this variant in the study cohort replicates the findings of other South Asian population studies of this variant. The presence of the p.H63D variant could be a potential risk factor for iron overload in the β-thalassemia patients. A more extensive cohort study is required to validate this finding.
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    Hypersensitivity pneumonitis associated with Red-Vented Bulbul: a new encounter of bird related hypersensitivity pneumonitis.
    (Hindawi Pub. Corp., 2019) Amarasinghe, W.D.N.L.; Jayasekara, R.; Jayamanne, B.D.W.; Nalaka, T.D.K.; Amarasiri, W.A.D.L.; Punchihewa, R.; Fernando, A.
    Bird related hypersensitivity pneumonitis (HP) is becoming more common than other forms of HP around the world. We present two cases of HP, associated with exposure to visiting birds which had nested within their homes in semi urban areas of Colombo, Sri Lanka. A 65-year-old female (case 1) and a 61-year-old male (case 2) presented to the chest clinic complaining of gradually progressive and persistent chronic dry cough and dyspnoea during the year 2018. Both were found to have close contact with red-vented bulbuls (Konda kurulla) in their homes for more than 6 months prior to onset of symptoms and denied any other risk exposures in detail history taking. In both patients, high-resolution computed tomography chest (HRCT) showed centrilobular nodules of ground glass density with significant lobular air trapping. Video-assisted thoracoscopic (VATs) lung biopsy of case 1 showed patchy and focal interstitial thickening with lymphocytic infiltrate, minimal fibrosis, and few noncaseating granulomata within the interstitium. Transbronchial lung biopsy of case 2 showed thickened alveolar septae with lympho-histiocytic infiltrate and occasional neutrophils and eosinopils. Both showed severe reduction in forced vital capacity (FVC) at presentation. Multidisciplinary diagnosis of HP associated with red-vented bulbuls was made. Both achieved good improvement in clinical, lung function, and radiological assessment following removal of offending antigen exposure and treatment with oral corticosteroids.