Role of serum pro-hepcidin and GSTM1 and GSTT1 null polymorphisms for estimation of the risk of myocardial siderosis in children and “young adults” with β-thalassemia major

Chakarov, Ivan; Vlaykova, Tatyana; Slavov, E.; Marinov, Rumen; Chakarova, P.

doi:10.1007/s00580-013-1677-9

Cited by 3 publications

(5 citation statements)

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“…As a result of repetitive transfusions and ineffective erythropoiesis, iron overload and consequently destructive oxidation occur in various organs, especially heart and liver (Chakarov et al 2014;Valko et al 2007). A number of studies have shown that due to high reactive oxidant species (ROS) concentrations, erythrocytes of a thalassemic patient are at a higher risk of apoptosis.…”

Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

“…A number of studies have shown that due to high reactive oxidant species (ROS) concentrations, erythrocytes of a thalassemic patient are at a higher risk of apoptosis. Glutathione S-transferase (GST) enzyme family forms a defense mechanism against such destruction (Chakarov et al 2014). These enzymes are encoded by 16 genes and are divided into five classes: a (GSTA), p (GSTP), l (GSTM), h (GSTT), and f (GSTZ) (Sclafani et al 2013).…”

Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

“…This genotype has a prevalence of 23-62% across the world, 30% among Caucasians and more than 50% in the Chinese (Sclafani et al 2013;Economopoulos and Sergentanis 2010). SNPs and deletions in the mentioned loci have been correlated with a decreased glutathione activity or total loss of it (Chakarov et al 2014;Elhasid et al 2010). These polymorphisms as well as the null genotype can play a role in tissue damage, including heart and liver, which is caused by iron overload in c-thalassemia patients (Sclafani et al 2013).…”

Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

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The Influence of Polymorphisms in Disease Severity in β-Thalassemia

et al. 2015

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β-Thalassemia is a genetic disorder with a continuum of mild to severe clinical manifestations and requirement of transfusion at different stages of life. The cause(s) of this variety is not clear but genetic alterations could be a potential factor. In this review, the correlation between polymorphisms and different clinical manifestations, including the need for transfusion, was investigated. Relevant articles published in pubmed database from 1982 onwards were studied and compiled. The articles all contained the keywords β-thalassemia, genetic modifiers, and mutations. Certain polymorphisms and mutations could dictate the severity of symptoms as well as their onset. A significant number of the mentioned genetic alterations appear in beta-globin gene cluster and affect gamma chain. Therefore, hemoglobin F production rate is increased and can affect thalassemia symptoms and can relieve β-thalassemia symptoms. A number of polymorphisms in catalase and glutathione S transferase genes have also been shown to modify the severity of disease and response to treatment. Knowledge of these mutations and polymorphisms can provide an insight into the prognosis for individual patients, especially in young ages or before birth to take proper measures in advance and eventually ameliorate the symptoms in the long run.

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Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

Section: Gstt1 and Gstm1 Polymorphismsmentioning

confidence: 99%

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The Influence of Polymorphisms in Disease Severity in β-Thalassemia

et al. 2015

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“…GSTM1 null genotype was less frequent in the acute myocardial infarction group than in controls (Wilson et al, 2000). In contrast, Chakarov et al (2014) have shown that, the frequency of GSTT1 null genotypes was significantly higher in β-thalassemic patients with myocardial siderosis than in controls (Chakarov et al, 2014).…”

Section: Pcrmentioning

confidence: 83%

The relation between glutathione S-Transferase M1 null-genotype and cardiac problems in beta-thalassemia.

et al. 2016

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“…The present study shows that patients having GSTM1 null genotype are at higher risk of LVDD. Chakarov et al [21] show that the frequency of GSTT1 null genotypes was significantly higher in β-thalassaemic patients with myocardial siderosis than in controls. Abo-Shanab et al [22] studied the 56 thalassaemia patients, including 16 having cardiac complications and 20 healthy controls, and showed that the GSTM1 null genotype frequency has no role in β cardiac complications in thalassaemia patients; however, they have not mentioned the type of cardiac complication and method of assessment of cardiac complication.…”

Section: Discussionmentioning

confidence: 99%