Apolipoprotein E gene polymorphism and left ventricular function in Iranian patients with thalassemia major

Bazrgar, Masood; Karimi, Mehran; Peiravian, Farah; Fathzadeh, Mohsen

doi:10.3324/haematol.10708

Cited by 12 publications

(10 citation statements)

References 14 publications

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“…For instance, in another study we found that mean serum ferritin in southern Iranian BTM patients was more than 3000 ng/mL [3], which is higher than developed countries [4]. Fung et al [1] have reported that the patients who died had a higher average serum ferritin in comparison with patients who survived.…”

Section: Causes For Hospitalization and Death In Thalassemia mentioning

confidence: 95%

“…In another study, we have found that numerous patients with left ventricular systolic dysfunction, based on echocardiographic indexes, were asymptomatic [3], whereas survival of the patients with heart failure reported about 6 months [6], therefore BTM patients should not wait for cardiac symptoms to beginning cardiac care. Because the main cause of cardiac involvement is iron overload, evaluation of iron deposition with T2-star magnetic resonance imaging (T2 * MRI) is the most precise method for assessment of iron in the heart [7].…”

Section: Main Causes For Hospitalization And/or Death Cardiomyopathymentioning

confidence: 98%

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Causes for Hospitalization and Death in Iranian Patients with β-Thalassemia Major

Bazrgar

Peiravian

Abedpour

et al. 2010

Pediatric Hematology and Oncology

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There are limited studies that have focused on the causes for hospitalization as an indicator of morbidity in patients with β-thalassemia major (BTM). A cross-sectional study was conducted to determine the main causes for hospitalization and death in hospitalized BTM patients in a referral hospital in Shiraz, southern Iran. During a 5-year period, 555 BTM patients were admitted to the hospital, of which 390 (67.7%) were 10 to 20 years of age. The most frequent causes for hospitalization were splenectomy (23%), heart failure (22.6%), liver biopsy (22.2%), uncontrolled diabetes (10.9%), arrhythmia (7.2%), cholecystectomy (3.8%), hypoparathyroidism (2.1%), and sepsis (2%). Of the hospitalized patients, 65 (11%), with a mean age of 16.1 ± 4.2 years, died. The most common causes of death were cardiomyopathy (72.3%), infections (17%), malignancies (3.1%), and cerebrovascular accidents (3.1%). Survival of our patients was less than in developed countries and cardiac complications were the most common cause of mortality and morbidity in these patients. Regarding the key role of iron chelation in prevention of different complications in BTM, correction of iron chelation regimen should be well considered.

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Section: Causes For Hospitalization and Death In Thalassemia mentioning

confidence: 95%

Section: Main Causes For Hospitalization And/or Death Cardiomyopathymentioning

confidence: 98%

Causes for Hospitalization and Death in Iranian Patients with β-Thalassemia Major

Bazrgar

Peiravian

Abedpour

et al. 2010

Pediatric Hematology and Oncology

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“…Therefore studies were performed to determine if the anti-oxidant characteristics of apoE 4 are related to the incidence of cardiac disease, as has been found in the general elderly population. Homozygous beta thalassemia patients with heart failure, in particular, those who developed heart failure at a young age, were found to have a higher prevalence of the apoE4 allele, suggesting that this allele is a risk factor for (though not essential for the development of) left ventricular failure [57][58][59].…”

Section: Cardiac Failurementioning

confidence: 98%

Genetic Modifiers in Hemoglobinopathies

Rund¹,

Fucharoen

2008

CMM

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Hereditary anemias show considerable variation in their clinical presentation. In some cases, the causes of these variations are easily apparent. In thalassemia (or in HbE/thalassemia), genetic variation is primarily caused by the severity of the thalassemia mutation. However, not uncommonly, there is variation unexplained by the globin gene mutations themselves, which may be caused by genetic modifiers. In sickle cell disease, the primary mutation is the same in all patients. Therefore, variations in disease severity generally are due to genetic modifiers. In most genetic diseases involving beta globin, the most clearcut influence on phenotype results from elevated fetal hemoglobin levels. In addition, alpha globin gene number can influence disease phenotype. In thalassemia major or intermedia, reduction in the number of alpha globin genes can ameliorate the disease phenotype; conversely, excess alpha globin genes can convert beta thalassemia trait to a clinical picture of thalassemia intermedia. In sickle cell disease, the number of alpha globin genes has both ameliorating and exacerbating effects, depending on which disease manifestation is being examined. Unlinked genetic factors have substantial effects on the phenotype of hereditary anemias, both on the anemia and other disease manifestations. Recently, studies using genome-wide techniques, particularly studying QTLs causing elevated HbF, or affecting HbE/thalassemia, have revealed other genetic elements whose mechanisms are under study. The elucidation of genetic modifiers will hopefully lead to more rational and effective management of these diseases.

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“…ApoE gene polymorphism has been associated with various diseases such as cardiovascular disease (Eichner et al., ), Alzheimer's disease (Rubinsztein & Easton, ), essential hypertension (Stoumpos et al, ), and type 2 diabetes (Anthopoulos et al., ). ApoE acts as a scavenger of free radicals and patients with E 4 allele have a higher risk for iron‐induced damage of cellular and subcellular particles (Gibson et al., ) and thus left ventricular complications (Bazrgar et al., ; El‐Tagui et al., ). E 4 allele is not a necessary factor for developing LVF, but because of its reduced antioxidant and iron‐binding activity, it should to be considered a predictive genetic factor for cardiac dysfunctions in homozygous beta‐thalassemic patients (Ferrara et al., ).…”

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta‐Thalassemia: A Multivariate Meta‐Analysis

Dimou

Pantavou

Bagos

2017

Annals of Human Genetics

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Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results of independent studies examining the effect of ApoE on LVF development in thalassemic patients through a meta-analytic approach. However, all studies report more than one outcome, as patients are classified into three groups according to the severity of the symptoms and the genetic polymorphism. Thus, a multivariate meta-analytic method that addresses simultaneously multiple exposures and multiple comparison groups was developed. Four individual studies were included in the meta-analysis involving 613 beta-thalassemic patients and 664 controls. The proposed method that takes into account the correlation of log odds ratios (log(ORs)), revealed a statistically significant overall association (P-value = 0.009), mainly attributed to the contrast of E4 versus E3 allele for patients with evidence (OR: 2.32, 95% CI: 1.19, 4.53) or patients with clinical and echocardiographic findings (OR: 3.34, 95% CI: 1.78, 6.26) of LVF. This study suggests that E4 is a genetic risk factor for LVF in beta-thalassemia major. The presented multivariate approach can be applied in several fields of research.

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Apolipoprotein E gene polymorphism and left ventricular function in Iranian patients with thalassemia major

Cited by 12 publications

References 14 publications

Causes for Hospitalization and Death in Iranian Patients with β-Thalassemia Major

Causes for Hospitalization and Death in Iranian Patients with β-Thalassemia Major

Genetic Modifiers in Hemoglobinopathies

Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta‐Thalassemia: A Multivariate Meta‐Analysis

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