جستجوی مقالات مرتبط با کلیدواژه « iron overload » در نشریات گروه « پزشکی »

Iron overload is a major complication in patients with beta-thalassemia major. Excessive iron accumulation leads to organ dysfunction. The regular assessment of iron is crucial to effectively manage iron overload in these patients. This study evaluated the correlation between serum ferritin levels, the Aspartate Aminotransferase-to-Platelet Ratio Index (APRI), and hepatic MRI T2* findings in children with beta-thalassemia major.

This retrospective analytical study was conducted at Shahid Sadoughi Hospital in Yazd in 2023. The research population comprised all the children under the age of 15 with beta-thalassemia major who had undergone multiple blood transfusions (at least ten units of blood).

The participants in this study were 70 children with beta-thalassemia major, including 35 males and 35 females. Their mean age was 3.52 ± 10.76 years. The mean relaxation time of liver MRI T2* was 4.42 ± 4.91 ms. The participants also had the APRI score of 0.55 ± 1.90, the aspartate aminotransferase (AST) level of 23.82 ± 36.29, and the serum ferritin level of 285.01 ± 3244.04 (ng/mL). Based on MRI T2* results, 30% of the patients had a severe liver iron overload, 27.1% had a moderate overload, 21.4% had a severe overload, 18.6% had a mild overload, and 2.9% had near-normal iron levels.The AST level demonstrated a significant association with the type of chelation treatment (P = 0.003). The duration of blood transfusion (in years) showed a strong positive correlation with the patients' age (Pearson's coefficient = 0.996).

This study indicates the elevated serum ferritin levels and APRI scores in patients with beta-thalassemia major, most of whom have abnormal MRI T2* findings. However, no significant correlation was observed between the APRI score, serum ferritin level, and MRI T2* results.

As the nicotinamide adenine dinucleotide phosphate (NADPH) is the key natural electron generator of the alive cells, investigation of the possibility of inactivation or even destruction of it by hazardous chemical molecules or ions seems to be very important.

Due to this, in this project, the behavior of NADPH in the presence of some chemical species containing Fe(II) ion, arsine, phosphoric acid, and some low weight alcohols have been investigated by using the density functional theory (DFT) method.

Comparison of the results of the potential energy surface (PES) study showed that adsorption of methanol, ethanol, normal propanol, H3PO4, arsine and Fe(II) ion by NADPH release -23.19 kcal mol-1, -23.03 kcal mol-1, -23.30 kcal mol-1, -35.04 kcal mol-1, -53.03 kcal mol-1, and -161.59 kcal mol-1 energy, respectively.

It indicates that absorption, and even destruction of NADPH by a free Fe(II) ion is very favorable in view of thermodynamics. Somehow, such energy release could make this process irreversible. Also, the geometrical results show that during the adsorption of iron ion by the NADPH, the phosphate bridge breaks and the molecule decompose in two different parts.

Beta thalassemia major (β-TM) is an inherited blood disorder. Affected patients require frequent blood transfusions, leading to iron deposition and end organ damage, particularly myocardial dysfunction. A 12-lead ECG is a readily available tool that could be used to screen for conduction abnormalities and arrhythmias as a marker of worsening myocardial function.  A total of 108 β-TM patients were evaluated for correlation between abnormal findings on the surface ECG and severity of myocardial iron deposition in magnetic resonance imaging as measured by T2* levels.  Patients with T2* below 20 msec had significantly longer PR intervals, P wave durations, and QTc intervals. Patients with T2* below 10 msec had the longest QRS duration and QRS activation times. Atrial fibrillation was more prevalent in patients with lower T2* levels. With a decrease in T2*, the probability of notching of QRS in the limb and precordial leads increased.  Abnormal ECG is prevalent in β-TM patients, and the frequency of changes increases with the severity of iron overload. A 12-lead ECG is a valuable and readily available tool for the early assessment of myocardial damage and the implementation of a timely and appropriate management strategy.

Beta thalassemia is an inherited genetic disorder that often leads to transfusion dependence. One of the significant issues that these patients face is increased iron accumulation in their bodies due to the nature of the disease and regular blood transfusions. Iron overload can cause hemosiderosis and tissue damage in various organs, including the heart, liver, and endocrine systems. Endocrine problems are one of the most common complications in transfusion-dependent thalassemia, and addressing these complications can significantly improve patients' health-related quality of life. The prevalence of endocrinopathy is high, especially in patients with poor compliance with therapy. The most common endocrine disorders include hypogonadism, growth disturbances, short stature, delayed puberty, acquired hypothyroidism and hypoparathyroidism, adrenal dysfunction, osteoporosis, diabetes, fertility issues, and complications during pregnancy. Timely diagnosis and treatment of endocrine disorders can improve patients' quality of life and reduce social problems. This article reviews the literature on the various endocrine complications encountered in thalassemia.

 Hereditary hemochromatosis (HH) is an autosomal recessive metabolic disorder. Mutations in different encoding genes, mostly HFE, lead to iron overload in different organs of the body. We hereby report a case of HH caused by a novel variant in the HFE2 (HJV) gene.

 A 27-year-old man first sought medical care for impotence and was diagnosed with increased serum iron. He ceased the follow-up and was referred to our center with advanced symptoms of hemochromatosis, including central hypogonadism, heart failure, and ascites. The genetic test revealed that he was homozygote for a variant defined as c.950G>A (p.Cys317Tyr) in exon 4 of the HJV gene. The patient’s symptoms improved following the medical interventions. At a 4th year follow-up, he was alive and his clinical status was stable.

 The product of HJV, hemojuvelin is involved in iron metabolism. Pathogenic variants in this gene have been associated with hemochromatosis type 2A, also named juvenile hemochromatosis, which results in drastic iron loading and organ failure in affected individuals before 30 years of age.

 c.950G>A (p.Cys317Tyr) in exon 4 of the HJV gene is a novel pathogenic variant causing hemochromatosis type 2A.

Multi-organ iron load is prevalent crucial side effect in thalassemic patients due to repeated transfusions, and high intestinal iron absorption. MRI T2* has demonstrated its potency as a non-invasive technique for the imaging of hemosiderosis in thalassemia. We aim to investigate the iron load of adrenal glands and kidneys using MRI T2* in adult thalassemia patients and evaluate the serum ferritin correlation of with kidneys, heart, liver, and adrenal glands’ iron load. Thirty-five thalassemia major (TM) and thalassemia intermediate (TI) patients (age range 18-50 years) from Zafar thalassemia Clinic, were recruited in this survey from September 2019 to October 2020. Magnetic Resonance Imaging (MRI) was used to map iron overload in several organs’ regions of interest (ROIs) using fast-gradient-echo multi echo T2*sequences protocol. T-test and chi-square analysis were done. Nine (25.7%) patients had left Kidney T2* less than 36ms which could indicate abnormal renal iron load while this was 8 (22.9%) for the right kidney. In the left and right adrenal glands, these numbers were 31 (88.6%) and 29 (82.9%), respectively, below the normal threshold. Adrenal gland and renal iron overloads were detected in MRI images of thalassemic patients. Correlation for serum ferritin levels and kidney and adrenal glands T2* was found weakly negative. Non-invasive monitoring of the internal organs’ hemosiderosis using MRI T2* was found to be beneficial for iron-chelating optimization and preventing irreversible tissue damage.

To explore the diagnosis and evaluation efficacy of liver iron concentration (LIC) based on magnetic resonance quantitative technique in liver iron overload in patients with long-term transfusion.

From November 2021 to January 2023, 30 chronic aplastic anemia (CAA) patients with long-term blood transfusion admitted to our hospital were included as the study group. Simultaneously, 20 healthy volunteers with matched gender and age were included in the control group. The serum ferritin (SF), serum iron, total iron binding capacity and transferrin saturation (TSAT) between the two groups was calculated and compared. LIC was evaluated using Liver Magnetic resonance imaging (MRI)-R2* map imaging. The correlation between LIC and SF and TSAT was analyzed, and the diagnosis value of LIC in hepatic iron overload was calculated. Low-risk patients (n=22) diagnosed with iron overload received continuous regular iron removal treatment and the SF, TSAT and LIC were measured after 6 months.

SF, TSAT and LIC were higher in CAA patients relative to the healthy controls (P<0.05). LIC was positively correlated with SF (r=0.74, P<0.001) and TSAT (r=0.67, P<0.001). The sensitivity and specificity of LIC in the diagnosis of hepatic iron overload were 80.00% and 100% based on SF, and 76.0% and 100% based on TSAT, respectively. Additionally, SF, TSAT and LIC were all declined after 6 months of treatment (P<0.05).

The detection of LIC based on MRI-R2* is an effective and non-invasive means for the assessment of liver iron load in patients with long-term transfusion.

Iron overload can adversely affect thyroid and parathyroid function in patients with transfusion-dependent thalassemia. Iron deposition in both glands or the pituitary gland, which controls thyroid function, can lead to their destruction and dysfunction. Hypothyroidism can cause symptoms such as fatigue, weight gain, and depression, while hypoparathyroidism can cause symptoms such as numbness and tingling in the hands and feet, muscle cramps, and seizures. Regular thyroid and parathyroid function monitoring is essential in thalassemia patients to detect any dysfunction early and provide appropriate treatment. Treatment may include medications to replace thyroid hormone or calcium and vitamin D supplements to manage hypoparathyroidism. A comprehensive approach to managing endocrine complications in thalassemia patients can improve outcomes and quality of life for these individuals. To provide professional healthcare members with clear and concise recommendations for diagnosing and treating hypothyroidism and hypoparathyroidism in transfusion dependent thalassemia patients, a practical national guideline should be developed.

Beta-thalassemia is an inherited blood disorder that leads to early apoptosis of red blood cells (RBCs), ineffective erythropoiesis, and ocular complications. The disease is classified into beta-thalassemia minor (β-TMi), beta-thalassemia intermedia (β-TI), and beta-thalassemia major (β-TM).We aim to review various functional and structural ocular manifestations of β-TM patients in different studies and present the most important findings based on the prevalence and etiologies of each ocular complication.

To reach this purpose, we developed a search strategy using the keywords “eye disease,” “ocular complications,” “ocular manifestations,” and “ocular abnormality,” each with “beta-thalassemia” in the two popular search engines PubMed and Google Scholar up to December 2022. We also reviewed related references of the chosen papers.

According to the literature review, the most consistent is the correlation of β-TM with dry eye disease and fundus alterations, while there are still many challenges regarding the prevalence and etiologies of other ocular complications in β-TM patients.

This finding warrants studies with larger sample sizes to reach more reliable results and take them into action for preventing and timely diagnosing such ocular complications.

Iron-induced cardiomyopathy is the main cause of heart failure in patients with beta-thalassemia major (β-TM). Early diagnosis and timely cardiac iron overload (IO) therapy can improve patients’ prognosis.

This study evaluated the value of exercise test parameters and high-sensitivity C-reactive protein (hs-CRP) in detecting cardiac IO in patients with β-TM.

Forty β-TM patients (age range:18 – 48) were enrolled in this cross-sectional study. Serum hs-CRP was measured using ELISA. Echocardiography and exercise treadmill tests were performed. Cardiac IO was determined using cardiac T2* (CT2*) magnetic resonance imaging, and patients were divided into abnormal (CT2* < 20 ms; n = 22) and normal (CT2* > 20 ms; n = 18) groups. Statistical analyses were conducted using SPSS software. The Mann-Whitney U-test was used to assess differences between the groups. The correlations of variables were evaluated using Pearson’s or Spearman’s correlation analysis. Receiver operator characteristic (ROC) curves were drawn to calculate the optimum cutoff for each test.

We found a significantly higher level of hs-CRP (P = 0.011) and lower levels of the chronotropic index (CI) (P = 0.009) and heart rate recovery (HRR) at minutes 2 – 5 (P < 0.01) in the patients with abnormal CT2*. CT2* was inversely correlated with hs-CRP (r = -0.381, P = 0.022) and positively correlated with the CI (r = 0.346, P = 0.031) and HRR at minute 4 (HRR4) (r = 0.456, P = 0.005). ROC curve data showed diagnostic values of CI (AUC = 0.80, P = 0.005), HRR4 (AUC = 0.786, P = 0.008), and hs-CRP (0.711, P = 0.033) in predicting the severity of IO. These tests showed high sensitivity (CI = 84.6%, HRR4 = 84.6%, and hs-CRP = 85.7%) but low specificity (CI = 70.6%, HRR4 = 41.2%, and hs-CRP = 53.3%) in detecting the severity of cardiac IO.

We found that hs-CRP, CI, and HRRs were significantly associated with the severity of cardiac IO. Despite high sensitivity, these markers showed poor specificity in predicting cardiac iron deposition in β-TM patients.

β-thalassemia is the most common genetic disorder worldwide. β-thalassemia major results in severe anemia and serious complications. So, this study aims to evaluate the hematological and biochemical markers in β-thalassemia major patients in Bushehr city.

Our study included 94 transfusion-dependent β-thalassemia major were compared with 94 normal healthy subjects as controls. Hematological assessments included complete blood count indices. The biochemical evaluations included liver, kidney, and thyroid function tests, lipid profile, sodium, potassium, calcium, phosphorus, fasting blood sugar, and serum ferritin.

All hematological parameters in patients, such as hemoglobin (p < 0.01), hematocrit (p < 0.01), mean corpuscular volume (p < 0.05), and mean corpuscular hemoglobin (p <0.05), were significantly reduced compared to the control group except mean corpuscular hemoglobin concentration which was insignificant (p > 0.05). Higher levels of triglyceride, phosphorus, fasting blood sugar, aspartate aminotransferase, alanine transaminase, alkaline phosphatase, uric acid, total and direct bilirubin, and lower levels of cholesterol, high-density lipoprotein, and low-density lipoprotein were observed in patients in comparison to the control group (p < 0.05). Serum sodium, potassium, calcium, and albumin was not significantly different from the control group (p > 0.05). The prevalence of primary hypothyroidism (thyroid stimulating hormone > 4.5 mIU/l and T4 < 5.6 μg/dl) was reported at 5.31%.

This study emphasized the necessity for regular follow-up and evaluation of β-thalassemia, which could be used to improve treatment protocols.

Cardiac involvement due to iron deposition in β-thalassemia major remains the main cause of mortality. We assessed the effects of cardiac iron overload on the incidence of arrhythmias in β-thalassemia major.

The present cross-sectional study enrolled patients with β-thalassemia major referred to a tertiary cardiovascular care center in Tehran, Iran, between January 2019 and January 2020. The patients’ characteristics were collected using hospital records. Cardiac iron overload status was assessed using cardiac T2* magnetic resonance (severe ≤10 ms, moderate =10–20 ms, and mild =20 ms).

The present study recruited 81 β-thalassemia major cases with a mean age (SD) of 30.69 (11.12) years. Mild, moderate, and severe iron overload statuses were reported in 44.4%, 22.2%, and 33.3% of the stud population, respectively. Of 44 patients (54.3%) with arrhythmias, supraventricular tachyarrhythmias were seen in 24.7%, ventricular tachycardias in 19.8%, and atrioventricular blocks in 9.9%. A significant association was reported between iron overload status and the presence of arrhythmias (P<0.001). There was a significant association between iron overload and dilated atria (P=0.004). The left ventricular ejection fraction (LVEF) was not associated with cardiac iron status, but it was associated with the presence of arrhythmias (P<0.001). Desferal therapy was considerably associated with cardiac iron status (P=0.04).

According to iron chelation therapy, patients with more severe iron overload had a higher incidence rate of arrhythmias. Additionally, patients with lower LVEF values had a higher incidence rate of arrhythmias. There was no statistically significant association between LVEF and cardiac iron overload status. (Iranian Heart Journal 2022; 23(4): 60-68)

Major β-thalassemia refers to a severe form of β-thalassemia in which, patients need blood transfusions from an early age. Iron overload is an important and long-term complication of repeated blood transfusions. The lungs are one of the sites of iron deposition; therefore, it is essential to investigate lung dysfunction due to iron deposition. This study evaluates pulmonary function tests in β-thalassemia major patients receiving regular blood transfusions and chelation therapy.

In this cross-sectional descriptive study, 120 patients (68 males and 52 females) with β-thalassemia major aged 6 to 41 years who underwent blood transfusion at Bahrami Children's Hospital (Tehran, Iran) in 2021 were enrolled. The patients underwent hematological and pulmonary function tests on the day of transfusion. Association between pulmonary function tests and demographic and laboratory data was investigated.

Spirometry indices including forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), and forced expiratory volume to forced vital capacity ratio (FEV1/FVC) were 86.14%±9.9, 87.86%±11.19, and 98.78%±10.97, respectively. In this study, the percentages of FEV1 and FEV1/FVC of patients older than 23 years were significantly lower compared to patients younger than 23 years. Moreover, a significantly lower FEV1/FVC ratio was seen in patients with higher body mass index and a serum ferritin level above 3,325 ng/dl. The most common impairment (19%) was a restrictive pattern.

Age is inversely associated with FEV1 and FEV1/FVC ratio. Moreover, higher body mass index and serum ferritin levels are significantly associated with reduced FEV1/FVC ratio.

Patients with thalassemia major require regular monthly blood transfusion and excess iron from multiple blood transfusion deposits in different organs of the body, causing different organ damages. Cardiac iron overload is the main cause of death in patients with thalassemia major. The aim of this study was to determine the effectiveness of Deferasirox (Nanojade) produced in Iran for the first time as a medicine in reducing iron overload of chronic blood transfusion in patients with Beta-thalassemia major. This is a pre-post quasi-experimental study that was performed on patients with thalassemia major involved in lifelong regular monthly blood transfusions. In this study, based on the existing protocols, injectable and dissolving iron chelating regimes were changed to a new generation of deferasirox oral tablets. To determine the effect of Nanojade, the mean level of the last three serum ferritin levels, before changing chelation, was compared with the serum ferritin levels after starting Nanojade. In the course of treatment, the possible side effects of Nanojade in various organs were monitored regularly. The mean age of the patients was 16 years (ranging between 3 and 39 years). None of the patients had renal failure, elevated creatinine, or proteinuria with Nanojade. The most important side effect was elevated liver enzyme levels. The mean starting dose of Nanojade was 19.86± 5.78 mg/kg and the mean of the last dose was 23.41 ± 5.49 mg/kg. There was a statistically significant difference between the amount of ferritin at baseline with the serum ferritin of 6 and 18 months after chelation with Nanojade (P = 0.001). chelation with Nano Jade had less renal and hepatic side effects; and all of the patients had good compliance and significant reduction in the serum ferritin level in comparison to the results of other studies regarding the similar foreign deferasirox products.

COVID-19 results in an imbalance between procoagulant and anticoagulant homeostatic mechanisms that could be complicated with thrombotic events. In β-thalassemia patients, the presence of comorbidities, iron overload, adrenal hypofunction, splenectomy, and chronic hypercoagulable state might increase the susceptibility to COVID-19 and its severity.

 The search was conducted in PubMed, Web of Science, and Scopus databases for the key terms of β-thalassemia/thalassemia and COVID-19 until July 2021.

The survey of published observational studies (mostly multicenter and case reports) indicated a lower prevalence of COVID-19 in β-thalassemia patients compared with the general population, as well as mild to moderate COVID-19 in these patients, especially in those without comorbidity. β-Thalassemia children were susceptible to COVID-19 but with less severity compared to adults. There is no report of pulmonary embolism and thrombotic events in β-thalassemia patients with COVID-19; however, coagulation abnormality and pulmonary microembolism have been found in these patients.

Findings could be interpreted by the presence of high hemoglobin F (HbF) levels, the advantage of hydroxyurea (HU) therapy, splenectomy, and iron chelation therapy in these patients. However, due to the low sample size and studying mainly young patients, the results should be interpreted with caution, and it still needs more studies with a larger sample size to confirm these findings.

Beta-thalassemia major is a type of inherited blood disease that results in variable outcomes such as severe anemia due to haemoglobin chains. Recurrent and lifelong blood transfusions as a treatment in beta-thalassemia major disease lead to iron deposition in various organs and cause the failure of multiple organs. Failure of affected organs leads to Body mass index (BMI) abnormality. This study aimed to evaluate the association between BMI and serum ferritin level as a marker for iron overload.

A cross-sectional study designed and conducted with total number of 740 paediatrics, with mean age about 14.2±8.7 years old and with beta-thalassemia major requiring recurrent blood transfusion. Patient information, including demographics, serum ferritin level and percentage of BMI, was recorded and analysed by SPSS 25.0 and the statistical significant level, considered as 0.05.   

A total number of 740 paediatrics with beta-thalassemia major disease (mean age about 14.2±8.7 years) were included to study to examine the association between serum ferritin level and their BMI.  The total mean serum level of ferritin calculated about 3326 ± 3859 Nanogram/mililitter (ng/ml). Totally, 447 (60.4%) case of them had BMI percentile less than 5%, 274 (37.02%), 16 (2.16%) and 3 (0.4%) had BMI percentile 5%-85%, 85%-95% and more than 95%. There was no relation between gender and serum ferritin levels. The relationship between age and BMI has been positive (P=0.002). Finally, it resulted that there was a negative relationship between the BMI percentile and mean serum ferritin levels in paediatrics with beta-thalassemia major (P=0.031).

Frequent Blood transfusion is associated with elevated serum ferritin level in paediatrics with beta-thalassemia major disease and experiencing lower percentiles of BMI in these patients.

Regular packed cell transfusion in patients with thalassemia major leads to iron overload. Chelation therapy is one of the important aspects of thalassemia care as iron overload causes significant cardiac, hepatic, and endocrine dysfunction. We report a case of thalassemia major with severe iron overload causing cardiac and liver dysfunction who benefitted from triple drug chelation therapy. Triple iron chelation therapy in thalassemia major could be suggested in severe iron overload patients.