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

Abstract 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 wh...

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Main Authors: Ruwangi Dissanayake, Nayana Samarasinghe, Samantha Waidyanatha, Sajeewani Pathirana, Nilaksha Neththikumara, Vajira H. W. Dissanayake, Kalum Wetthasinghe, Lallindra Gooneratne, Pujitha Wickramasinghe
Format: Article
Language:English
Published: BMC 2022-06-01
Series:BMC Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s12887-022-03191-8