scholarly journals Polymorphisms in rs915941 and rs915942: Are they associated with increased risk of G6PD enzyme deficiency in the Sri Lankan population?

2021 ◽  
Vol 49 (2) ◽  
pp. 157
Author(s):  
R. Dewasurendra ◽  
N. Sepulveda ◽  
N. Chandrasekharan ◽  
N. Karunaweera ◽  
S. Gunawardena
2021 ◽  
Author(s):  
Ruwangi Dissanayake ◽  
Nayana Samarasinghe ◽  
Samantha Waidyanatha ◽  
Sajeewani Pathirana ◽  
Vajira HW Dissanayake ◽  
...  

Abstract Background. Iron overload (IO) is a complication in transfusion dependent beta thalassaemmia (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 one year in all. Those who were ≥ 8 years of age 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 mean age (SD) of this cohort was 9.5 (±4.6) years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The mean serum ferritin was 3405 (±2670.5) ng/dl. Hepatic IO was seen in 38 (95%) patients and cardiac IO was seen in 17 (42.5%) patients. All patients with cardiac IO were asymptomatic and had normal echocardiogrammes. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO.32 (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. 9 (17.3%) and 3 (5.8%) patients were heterozygotes for pathogenic variants of HFE and SLC40A1 genes respectively. There were no pathogenic variants for the TfR2 gene. The heterozygotes of the pathogenic variants of the HFE and SLC40A1 genes were not at increased risk of IO.Conclusions. Cardiac T2* MRI helps to detect cardiac IO prior to the onset of symptoms when the echocardiogramme is normal. It is important to perform hepatic and cardiac MRI T2* to detect IO in patients with TDT.


2015 ◽  
Vol 2 ◽  
pp. 81-84 ◽  
Author(s):  
Danika Nadeen Senanayake ◽  
Eresha. A. Jasinge ◽  
Kirit Pindolia ◽  
Jithangi Wanigasinghe ◽  
Kristin Monaghan ◽  
...  

2020 ◽  
Vol 29 ◽  
pp. S372-S373
Author(s):  
I. Whiteman ◽  
A. Jones ◽  
K. Selvarajah ◽  
C. De Silva ◽  
G. Sathiadas ◽  
...  

2004 ◽  
Vol 21 (2) ◽  
pp. 101-106
Author(s):  
D. Henzler ◽  
R. Kramer ◽  
U. H. Steinhorst ◽  
S. Piepenbrock ◽  
R. Rossaint ◽  
...  

2001 ◽  
Vol 120 (5) ◽  
pp. A602-A602
Author(s):  
A PEZZOLI ◽  
V MATARESE ◽  
B PAOLA ◽  
R MICHELE ◽  
G SUSANNA ◽  
...  

2007 ◽  
Vol 177 (4S) ◽  
pp. 497-497
Author(s):  
James Armitage ◽  
Nokuthaba Sibanda ◽  
Paul Cathcart ◽  
Mark Emberton ◽  
Jan Van Der Meulen

2007 ◽  
Vol 177 (4S) ◽  
pp. 200-200 ◽  
Author(s):  
Andrea Gallina ◽  
Pierre I. Karakiewicz ◽  
Jochen Walz ◽  
Claudio Jeldres ◽  
Quoc-Dien Trinh ◽  
...  

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