Glutathione S-Transferase Gene Polymorphism and Cardiac Iron Overload in Egyptian Patients with Beta Thalassemia Major

2015 ◽  
Vol 32 (1-2) ◽  
pp. 155-179
Author(s):  
Abeer A. Abdelmaksoud ◽  
Ahmed S. Ibrahim ◽  
Eman M. Sherif
Keyword(s):  
Gene Polymorphism ◽  
Iron Overload ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Glutathione S Transferase ◽  
Cardiac Iron ◽  
Beta Thalassemia Major ◽  
Transferase Gene ◽  
Egyptian Patients ◽  
Cardiac Iron Overload

GlutathioneS-transferase gene polymorphism: Relation to cardiac iron overload in Egyptian patients with Beta Thalassemia Major

Hematology ◽  
2015 ◽  
Vol 21 (1) ◽  
pp. 46-53 ◽  
Author(s):  
Galila M. Mokhtar ◽  
Eman M. Sherif ◽  
Nevin M. Habeeb ◽  
Abeer A. Abdelmaksoud ◽  
Eman A. El-Ghoroury ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Iron Overload ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cardiac Iron ◽  
Beta Thalassemia Major ◽  
Transferase Gene ◽  
Egyptian Patients ◽  
Cardiac Iron Overload

Assessment of the Relationship Between Iron Overload Based on Cardiac T2* MRI and Fragmented QRS in Beta-Thalassemia Major Patients

2020 ◽  
Vol 21 (8) ◽  
Author(s):  
Yazdan Ghandi ◽  
Danial Habibi ◽  
Aziz Eghbali
Keyword(s):  
Iron Overload ◽  
Chelation Therapy ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cardiac Iron ◽  
Fragmented Qrs ◽  
Beta Thalassemia Major ◽  
Cardiac Iron Overload ◽  
The Mean ◽  
T2 Mri

Background: Cardiac involvement in beta-thalassemia major patients is an important cause of mortality. Therefore, in these patients, timely diagnosis of cardiac disorder is essential. Objectives: The present study aimed at determining the association between cardiac iron overload and fragmented QRS (fQRS). Methods: This cross-sectional study was conducted on 40 β-TM patients, aged 5 - 40 years. The presence of fQRS was evaluated in 12-lead surface electrocardiograms. Cardiac T2* MRI was performed to determine the iron overload. The patients were divided into four groups of chelation therapy. Results: The mean age of patients was reported to be 22.50 ± 6.75 years. The groups showed no significant difference regarding gender, age, or left ventricular ejection fraction. The presence of fQRS was detected in 10 patients (25%), while T2* value was lower than 20 ms in 10 patients (25%). The mean age of patients with and without fQRS was 26.23 ± 2.71 and 19.40 ± 2.61 years, respectively (P = 0.001). The univariate analysis indicated that fQRS had a significant relationship with cardiac iron overload (OR = 5; 95% CI: 1.04 - 23.99; P < 0.044). The multiple logistic regression analysis represented a significant association between iron overload and fQRS (OR = 5.556; 95% CI: 1.027 - 30.049). The sensitivity and specificity of the fQRS against MRI were equal to 50% and 83.3% respectively. Conclusions: The absence of fQRS on ECGs could be a good predictor of the lack of cardiac iron overload in β-TM patients. The results showed that fQRS might indicate the no need for close monitoring for cardiac overload with cardiac MRI and aggressive chelation therapy.

The Effect of HFE Polymorphisms on Cardiac Iron Overload in Patients with Beta-Thalassemia Major

2013 ◽  
Vol 30 (8) ◽  
pp. 755-760 ◽  
Author(s):  
Aysen Turedi ◽  
Yesim Oymak ◽  
Timur Meşe ◽  
Yöntem Yaman ◽  
Selen Bayraktaroglu ◽  
...  
Keyword(s):  
Iron Overload ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cardiac Iron ◽  
Beta Thalassemia Major ◽  
Cardiac Iron Overload

scholarly journals SERUM FERRITIN AS A DIAGNOSTIC MARKER FOR CARDIAC IRON OVERLOAD AMONG BETA-THALASSEMIA MAJOR CHILDREN

2019 ◽  
Vol 6 (6) ◽  
pp. 269-272
Author(s):  
Subash Chandra Majhi ◽  
Nihar Ranjan Mishra ◽  
Prakash Chandra Panda ◽  
Sumeet Soumyaranjan Biswal
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Diagnostic Marker ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cardiac Iron ◽  
Beta Thalassemia Major ◽  
Cardiac Iron Overload

No Correlation Between Myocardial T2* and Right Ventricular Function in Thalassemia Major. A Single Centre Four Years Experience

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5308-5308
Author(s):  
Vassilios Perifanis ◽  
Efthimia Vlachaki ◽  
Nikolaos Neokleous ◽  
Aikaterini Teli ◽  
Antonia Kondou ◽  
...  
Keyword(s):  
Iron Overload ◽  
Right Ventricular ◽  
Ventricular Function ◽  
Right Ventricular Function ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Entire Group ◽  
Time Points ◽  
Cardiac Iron ◽  
Beta Thalassemia Major

Abstract Abstract 5308 Iron overload in the myocardium causes cardiomyopathy and increases the mortality of the transfusion-dependent patients with beta-thalassemia major. Myocardial T2* magnetic resonance imaging (MRI) provides a rapid and reproducible measure of cardiac iron loading and is being increasingly used worldwide for monitoring of transfusion-dependent thalassemia patients. Recent studies associate myocardial siderosis (T2* < 20 ms) with left ventricular (LV) dysfunction. However its relation with the right ventricular (RV) dysfunction has not yet been fully addressed. The aim of this study is to compare the relationship between cardiac T2* and RV function in transfusion-dependent beta-thalassemia major patients treated in a single institution in two different time points four years apart. Patients and Methods: Hundred patients (55 men; mean age, 25.8 ± 8,28 years) systematically transfused and iron chelated with different regimens were enrolled in the study. All MRI scans were performed at the beginning of the study and 4 years later. Each scan, acquired with an imager equipped with a 1.5 T magnet, included the measurement of heart T2* (mid-septum) together with LV and RV volumes, ejection fraction (EF ) and mass using previously published techniques. Results :Mean ferritin, mean T2* and mean RVEF at baseline was 1517 ± 1117 ng/ml, 33,39 ± 15,6 ms and 68 ± 5,37% respectively. There was no evident correlation between T2* and RVEF for the entire group as well as for the group with abnormal T2*. Four years later the T2* MRI was 36,64 ± 14,46 % ms expressing a statistical significant change (p<0.05). Mean ferritin and mean RVEF was 1275 ± 1045 ng/ml and 67,4±8,3% respectively. There was no other significant correlation between T2* and RESV, REDV for the entire group in the checked time points. At the beginning of the study, 20 out of the 100 patients had a T2* measurement below 20ms. At the end of the study 11 patients continued to have abnormal T2*.Four of the responders were treated with Deferiprone (out of 5), two with Deferasirox (out of 4) and three out of 5 with combination therapy (Desferrioxamine and deferiprone). All 6 patients treated with Desferrioxamine remained abnormal, although with better T2* measurements. Although there was a significant change in T2* measurements (p=0,018) in the group with abnormal T2*, RVEF did not show equally alteration. Conclusions: Myocardial iron deposition by MRI does not seem to be associated with RV dysfunction. The number of responders was too small to allow conclusions for most effective therapy. The only limitation of our study is that in contrast with other reports the percentage of patients with abnormal T2* was smaller (20%). Larger studies are required to determine the relation of right ventricular function and cardiac iron overload. Disclosures: Vlachaki: Novartis Hellas S.A.C.I.:. Oikonomou:Novartis Hellas S.A.C.I.:.

scholarly journals EVALUATION OF GLUTATHIONE-S-TRANSFERASE P1 POLYMORPHISM AND ITS RELATION TO BONE MINERAL DENSITY IN EGYPTIAN CHILDREN AND ADOLESCENTS WITH BETA- THALASSEMIA MAJOR

2016 ◽  
Vol 8 ◽  
pp. 2016004 ◽  
Author(s):  
Seham Ragab
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Z Score ◽  
Glutathione S Transferase ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Egyptian Children ◽  
Z Scores

Background:Osteoporosis is a major problem in beta thalassemia major (TM) patients. Increased oxidative stress and its controlling genes were linked to osteoporosis. Glutathione S-transferase P1 (GSTP1),Ile105 Val variant  is a functional  mutation with  reduced ant-oxidative property  .No data are available about this variant  or its association with osteoporosis  among thalassemia patients yet. Objectives: The aim of this study was to investigate Ile105Val polymorphism and its possible association with bone mineral density (BMD) values in a group of TM  children. Methods:Thirty five TM patients and 30 age and sex matched healthy controls were included. Liver and renal functions, serum ferritin, calcium, phosphorous, alkaline phosphatase and osteocalcin were assayed. BMD was determined by DXA with calculation of  Z-scores at lumbar spine (Ls) and femoral neck (Fn).Height for age z- score (HAZ) adjusted BMD Z-scores were considered . GSTP1 Ile105Val polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism. Results:The relative frequency of 105 Val allele was significantly higher in TM patients than the controls (P<0.0001). Significant association between genotype subgroups and BMD parameters was detected. Mutant homozygotes had significant lower BMD , Z –score and haz -adjusted BMD  Z-score at both Ls and Fn compared to wild homozygotes ( Ps =0.029, 0.008, 0.011, 0.001,0.02, 0.001) with significant higher osteocalcin level compared to heterozygotes and wild homozygotes (P=0.012 and P=0.013,respectively). Conclusion:  The results indicated that 105Val allele was frequent among TM patients and could increase their susceptibility to osteoporosis. Large sample studies are required to confirm these findings.  

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