Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.

BACKGROUND: Iron overload (IO) is a complication in transfusion dependent beta thalassaemia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka. MATERIALS AND METHODS: Fifty-seven (57) patients with TDT were recruited for this study. Serum ferritin was done once in 3 months for a period of one year in all. Those who were ≥ 8 years of age (40 patients) underwent T2* MRI of the liver and heart. Fifty-two (52) patients underwent next generation sequencing (NGS) to identify pathogenic variants in HBB, HFE, SLC40A1 and TFR2 genes. RESULTS: The median age of the patients of this cohort was 10 years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The median level of serum ferritin was 2452 ng/dl. Hepatic IO was seen in 37 (92.5%) patients and cardiac IO was seen in 17 (42.5%) patients. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO. Thirty-two (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. Eight (15.4%) and 1 (1.9%) patients were heterozygotes for pathogenic and likely pathogenic variants of HFE genes respectively. There were no pathogenic variants for the TfR2 and SLC40A1 genes. The heterozygotes of the pathogenic variants of the HFE were not at increased risk of IO. CONCLUSIONS: Cardiac T2* MRI helps to detect cardiac IO in asymptomatic patients. It is important to perform hepatic and cardiac T2* MRI to detect IO in patients with TDT. There was no statistically significant correlation between pathogenic variants of HBB and HFE genes with hepatic and cardiac IO in this cohort of patients.

Modification and Validation of a Maturity Assessment Tool for Public Health Information System Implementations in Sri Lanka.

INTRODUCTION: Maturity models assess the snapshot view of an organization and simultaneously guides the organization to advance on a road map towards ultimate levels of maturity. The health industry has recently embraced maturity models as a tool to improve the management of health information systems. Most electronic health information systems in Sri Lanka need assessment and monitoring and can benefit vastly by adopting maturity models. This study was conducted to modify and adopt a maturity model for public health institutions in Sri Lanka. METHODS: A review of the literature was done to identify a suitable model to measure the maturity of the public health information system implementations. A Modified Delphi study was then carried out with six experts to adapt the selected maturity tool, Public Health Information Technology (PHIT) maturity index, to the Sri Lankan context. Necessary modifications to the PHIT tool were done according to the comments gathered in the Modified Delphi rounds, and the validity of the tool was established. Finally, Key Informant Interviews were carried out with nine interviewees to qualitatively validate the instrument. RESULTS: The Public Health Information Technology maturity index developed by the University of Maryland, USA, was modified to suit the Sri Lankan context. Comments from the experts were accommodated during the initial rounds of the Modified Delphi study. It further derived the following values, indicating excellent content validity: I-CVI > 0.8 for 57 total items, S-CVI/Avg = 0.988, S-CVI/UA = 0.929 and Free-marginal kappa = 0.95. DISCUSSION AND CONCLUSIONS: Modified and validated PHIT tool can be used to measure the maturity of public health institutions in similar contexts.

Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries.

Although we are well into the second decade after the completion of the International Human Genome Project, genomic research has failed to fully represent the diverse ancestry of global populations. The resultant healthcare challenges faced by populations underrepresented in genomic research needs to be tackled by the global scientific community. In this paper, we address several major factors which have contributed to the existing health disparity and put forward a combination of scientific and political interventions needed to bring about a change that will ensure all global populations benefit equally from the advances made in genomic medicine and research.