Evidence map›Paper›PMID 35705926›Full record

ArticleBMC pediatrics2022

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.

Ruwangi Dissanayake, Nayana Samarasinghe, Samantha Waidyanatha, Sajeewani Pathirana, Nilaksha Neththikumara, Vajira H W Dissanayake, Kalum Wetthasinghe, Lallindra Gooneratne, Pujitha Wickramasinghe

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Ruwangi DissanayakeDepartment of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. ruwangi@pdt.cmb.ac.lk.
Nayana SamarasingheLady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Samantha WaidyanathaLady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Sajeewani PathiranaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Nilaksha NeththikumaraHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Vajira H W DissanayakeHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Kalum WetthasingheHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Lallindra GooneratneDepartment of Pathology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Pujitha WickramasingheDepartment of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
University of Colombo · LKLady Ridgeway Hospital for Children · LK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIron 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

methodsFifty-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.

resultsThe 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.

conclusionsCardiac 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.

Indexed as

beta-ThalassemiaHemochromatosis ProteinIron OverloadReceptors, Transferrinbeta-GlobinsCation Transport ProteinsChildFemaleFerritinsFerroportinHistocompatibility Antigens Class IHumansMaleMutationSri Lankabeta-GlobinsCation Transport ProteinsFerritinsFerroportinHemochromatosis ProteinHFE protein, humanHistocompatibility Antigens Class IReceptors, TransferrinTFR2 protein, humanIron overloadT2* MRITransfusion dependent beta thalassaemia

Identifiers

PMID35705926
PMCPMC9199146
OpenAlexW4282927500

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.