Article
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.
BMC pediatrics - 15 Jun 2022
Dissanayake Ruwangi, Samarasinghe Nayana, Waidyanatha Samantha, Pathirana Sajeewani, Neththikumara Nilaksha, Dissanayake Vajira H W, Wetthasinghe Kalum, Gooneratne Lallindra, Wickramasinghe Pujitha
Abstract excerpt
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....
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