Beta-thalassemia Patients Research Articles

COVID-19 infection and beta thalassemia; a single center experience in Iran

Introduction: COVID-19 infection is a contagious acute respiratory syndrome, leading to a high mortality rate; it is also a systemic disease, and all people are at risk of being infected, including hemoglobinopathies patients. Thalassemia is one of the most prevalent hemoglobinopathies while Beta-thalassemia patients, are at risk for the deadly effects of the coronavirus. Objectives: This study examines the prevalence, severity, and mortality rate of COVID-19 infection in thalassemia patients of the southwest of Iran. Patients and Methods: In this descriptive cross-sectional study, from March 2019 to September 2020, 1000 beta-thalassemia patients, referred to Shahid Baqaei 2 hospital, Ahvaz, Iran, were screened for COVID-19. Results: Findings showwd 80% of thalassemia patients were women. Fever, body aches, weakness, and dizziness were the main symptoms of patients. Conclusion: This result suggests that hemoglobinopathies may affect infections and mortality from COVID-19 infection. However, our findings do not support a direct association between hemoglobin disease and COVID-19, and further research is needed to confirm this, but this might state the hemoglobin’s role in the pathophysiology of COVID-19 infection.

Association Between Thalassemia and Leucocytic DNA Damage: A Pilot Study

Objectives: Thalassemia with frequent blood transfusion was considered under oxidative stress because of the chance of iron overload. Patients with thalassemia trait with no blood transfusion might also suffered from oxidative stress because of increased iron metabolism. This pilot study was to investigate if patients of alpha or beta thalassemia trait and received no blood transfusion were suffered from oxidative stress in term of DNA damage in peripheral leucocytes. Method: Comet assay was used to measure DNA damage of 20 normal subjects, 8 alpha and 12 beta thalassemia patients who did not received blood transfusion. The baseline and UV-mediated DNA damages of peripheral white blood cells were measured. The degree of DNA damage was quantified by visual scoring under light microscope after staining with Giemsa stain. Results: The mean (± standard deviation) comet score for normal baseline samples was 8.3 ± 6.1 whereas 105.4 ± 15.7 and 69.8 ± 20.3 for alpha and beta thalassemia respectively. While the comet scores were 71.9 ± 19.6, 193.1 ± 21.8 and 211.8 ± 51.6 for normal, alpha and beta thalassemia samples respectively in UV-treated samples. Results showed that both alpha and beta thalassemia patients had higher leucocytic DNA damage in baseline and oxidative stressed samples. Conclusion: Our data suggested thalassemia patients were under oxidative stress even no iron over loaded through transfusion.

A prospective cross-sectional study of thyroid dysfunction in transfusion- dependent beta-thalassemia patients

Objective: The objective of the study was to determine the hospital-based prevalence of thyroid dysfunction in transfusion-dependent beta-thalassemia in children and to study the correlation between serum ferritin levels and thyroid functions. Methods: This prospective cross-sectional study in transfusion-dependent thalassemia patients was conducted in the department of pediatrics of a teaching hospital in India. General and systemic examinations were done and recorded and hemoglobin (Hb)%, thyroid-stimulating hormone (TSH), T3, T4, free thyroxin 4 (FT4), serum ferritin, and anti-thyroid peroxidase (TPO) levels were estimated in the laboratory. Initially, the estimation of Hb, TSH, T3, T4, and serum ferritin was done for all the study participants. Later, the specific values of FT4 and anti-TPO were estimated in study participants with high TSH values. Results: Fifty beta-thalassemia children aged between 3 and 18 years were chosen in this study. The prevalence of subclinical hypothyroidism was 6% and no cases of clinical or central hypothyroidism were found. The mean serum ferritin level was 2671 ± 1592 ng/ml; however, no positive correlation between serum ferritin and TSH values was seen. Conclusion: In thalassemia patients, the thyroid failure usually occurs by the second decade of their life. It is important that all beta-thalassemia children should undergo annual screening of thyroid functions in addition to detection of their serum ferritin levels.

Prevalence and Risk Factors of Diabetes Mellitus in β-thalassemia Major Patients in the North of Iran: Mazandaran β-thalassemia Registry - 2017 to 2019

Introduction: Thalassemia is a hereditary hemolytic disease spread throughout India, Arabian Peninsula, Iran, Turkey, and Southeast Asia. Diabetes mellitus (DM) is a common complication of patients with β-thalassemia major (β-TM) due to iron sediment in the pancreas. The purpose of this study was to survey the prevalence of DM in patients with β-TM. Material and Methods: Demographic, clinical information, and some biological tests in conjunction with the proportion of T2DM were retrieved from the Mazandaran Thalassemia Registry (MTR) affiliated to the Mazandaran University of Medical Science. The data belong to December 2017 until December 2019. Results: The results are as follows: Use of iron chelators like deferiprone should be with caution and with respect to the patients' metabolic state to avoid complications like diabetes. 2024 ꞵ-TM patients have registered in MTR (Mazandaran Thalassemia Registration). Data were completed for 597 cases including 72 patients (12.1%) diabetic and 525 patients (87.9%) non-diabetic. Beta-thalassemia patients with DM were significantly older than non-diabetic patients. Also, the percentage of ꞵ -TM cases dependent on red cell transfusion and patients with a history of spleen surgery in the diabetic group was significantly higher than in the non-diabetic group. Also, (42.7%) of diabetic patients (34 patients) were treated with insulin.Conclusion: We concluded that the history of splenectomy and the number of blood transfusions was higher in the diabetic group and associated with it. Future therapeutic approaches need to focus on reducing splenectomy and a high number of blood injections to avoid diabetes, and its complications in TM patients need to be investigated in future researches.

Changing patterns of thalassaemia in Italy: a WebThal perspective.

Migration has impacted the spread of thalassaemia which is gradually becoming a global health problem. Italy, with an approximate estimation of 7,000 patients, does not have an accurate national record for haemoglobinopathies. This cross-sectional evaluation includes data for approximately 50% of beta-thalassaemia patients in Italy to provide an overview of the burden of thalassaemia syndromes. The analysis included data on epidemiology, transfusions and clinical parameters from 3,986 thalassaemia patients treated at 36 centres in Italy who were alive on 31st December 2017. The study used WebThal, a computerised clinical record that is completely free-of-charge and that does not have any mandatory fields to be filled. For patients with thalassaemia major, 68% were aged ≥35 years and 11% were aged ≤18 years. Patients with thalassaemia intermedia were slightly older. Transfusion data, reported in a subgroup of 1,162 patients, showed 9% had pre-transfusion haemoglobin <9 g/dL, 63% had levels between ≥9 and <10 g/dL, and 28% had levels ≥10 g/dL. These 1,162 patients underwent 22,272 transfusion days during 2017, with a mean of 19 transfusion days/year/patient (range 1-54 days). Severity of iron overload was reported in 756 patients; many had moderate or mild liver iron load (74% had liver iron <7.5 mg/g dry weight). In the same cohort, 85% of patients had no signs of cardiac iron load (MRT2* >20 ms), and only 3% showed signs of high-risk heart condition (T2* <10 ms). Most patients had normal alanine amino transferase levels due to treatment with the new anti-hepatitis C virus (HCV) drugs. This study provides an overview of the current health status of patients with thalassaemia in Italy. Moreover, these data support the need for a national comprehensive thalassaemia registry.

Experience with combination of hydroxyurea and low-dose thalidomide in transfusion-dependent beta thalassemia patients.

Hydroxyurea (HU) and thalidomide have been reported to improve clinical and hematological parameters in transfusion-dependent beta thalassemia (TDT). Therefore, we retrospectively analyzed the combination of HU and thalidomide in 140 transplant ineligible TDT, ≥ 10 years old, visiting our thalassemia clinic between October 2014 and November 2019. Responses were defined as maintenance of hemoglobin ≥9gm/dl without transfusion as complete response (CR) and with at least 50% reduction in transfusion burden as partial response (PR). Patients with less than 50% transfusion burden reduction for consecutive 6 months of therapy were defined as non-responders (NR), and treatment was discontinued thereafter. Primary end point was overall response rate (ORR) at last follow-up. At median follow-up of 22.6 (95% CI 16.4-28.7) months, 76 (57.2%) patients achieved CR and 19 (14.3%) achieved PR, accounting to an ORR of 71.5%. Among responders at last follow-up, a significant increase in the post-treatment hemoglobin (0.88±0.37gm/dl, p<0.0001) and drop in serum ferritin (-1490.5ng/ml, p<0.0001) were observed. Median time to CR was 124 (95% CI 75.3-172.6) days. Median longest continuous CR was 791 (95% CI 662.2-919.7) days. Common toxicities observed were sedation (25%), hyperbilirubinemia {(23.57%, grade 3/4 =17 (12.14%)}, and constipation (22.8%). Nearly three-fourth of the patients has responded with majority having CR. Adverse events are a concern; hence, regular close monitoring is a prerequisite.

Evaluation of Corneal Epithelial Thickness and Dry Eye Disease Tests in Thalassemic Adolescents.

PurposeTo assess dry eye disease (DED) in thalassemic adolescents by evaluating corneal epithelial thickness (CET) and various dry eye clinical tests and correlate them to tissue iron overload.MethodsThe study included 120 Beta-thalassemia patients (11 to 18 years) and 120 matched controls. CET maps were captured using anterior segment optical coherence tomography. OSDI questionnaire was completed. Dry eye tests included Schirmer test, tear film breakup time ‎‎ (TBUT), and ocular surface staining (OSS) with fluorescein and lissamine green. We recorded serum ferritin ‎level, and liver iron concentration (LIC) measured by magnetic resonance imaging.ResultsSuperior and inferior CET was thinner, while map standard deviation (MSD) was higher in thalassemics compared to controls (all P‎<0.001‎). Thalassemic group also showed higher OSDI scores‎ (P‎<0.001), shorter TBUT ‎‎(P‎<0.001‎), and higher OSS grades (P‎<0.001‎). Both superior and inferior CET was correlated positively with TBUT, and negatively with OSS (all P < 0.001). Serum ferritin and LIC showed negative correlations with CET (superior and inferior, both P< 0.001), positive correlations with MSD, P< 0.001, as well as with TBUT (P< 0.001), OSS ‎(P< 0.001), and OSDI scores (P< 0.001).ConclusionThalassemic adolescents had thinner CET with higher thickness’ variability, shorter TBUT and more marked OSS‎ than controls. Correlation of higher serum ferritin and hepatic iron overload with irregular epithelial thinning and more affected dry eye tests results supports our hypothesis that high tissue iron levels could play a pivotal role in DED pathogenesis in thalassemic patients.

Evaluation of the Significance of Tear Ferning Patterns in beta-Thalassemia Patients.

This study was designed to evaluate the tear film in beta-thalassemia patients using tear ferning (TF) and phenol red thread (PRT) tests. Forty beta-thalassemia patients, aged 18 - 38 years (25.7 ± 6.0 years), along with a control group of 40 age-matched subjects with healthy eyes completed the study. All subjects completed the ocular surface disease index (OSDI) first, followed by the TF and PRT tests with a 5-minute gap between the tests. Significant differences (Wilcoxon test, p < 0.05) were observed between the beta-thalassemia and control groups in all scores. Among beta-thalassemia patients, OSDI scores indicated eye dryness in 35 subjects (87.5%). PRT showed dryness in 31 subjects (77.5%) in the right and left eyes, and the TF grades were ≥ 2 for the tears collected from 35 subjects (87.5%). There was a strong correlation (r = 0.851, p = 0.001) between the PRT measurements in the right and left eyes. There was a medium correlation between OSDI and TF scores (r = 0.309, p = 0.026) and between OSDI and age (r = 0.365, p = 0.010). Age had a moderate negative correlation (r = - 0.328, p = 0.019) with the PRT obtained from the right eye. Significant ocular dryness symptom was observed in beta-thalassemia patients, based on the scores collected from TF and PRT tests. Beta-thalassemia patients develop dry eyes, possibly due to several factors, including reduced tear secretion. Therefore, it is important to regularly evaluate both the quality and quantity of tears in patients with beta-thalassemia.

The combined use of electrocardiography, echocardiography and cardiac magnetic resonance imaging in left atrium evaluation among beta-thalassemia patients

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Beta-thalassemia major (β-TM) patients are subjected to iron overload as a consequence of chronic blood transfusions. The redundant iron affects, among other organs, the heart resulting in myocardial dysfunction. Iron deposition does not only affect ventricular myocardium but atrial myocardium as well. According to current practice, the overall myocardial iron status is estimated by calculating T2* at the middle section of the ventricular septum using cardiac magnetic resonance imaging (CMR). Current CMR technology limits the direct estimation of atrial iron status. Purpose The current study evaluates left atrial function by novel echocardiographic techniques and correlates these findings with CMR data. Methods 37 β-TM patients (mean age 41.17 years (SD = 8.33), 51.4% male), were subjected to electrocardiography, echocardiography and CMR imaging and P wave axis, PR segment duration, left atrial volume index (LAVI), left atrial strain at reservoir phase (LASr) and T2* were measured. Results No correlation between T2* and LASr (r = 0.253, p = 0.131) or T2* and LAVI (r = 0.044, p = 0.796) were found. However, a correlation was found between the echocardiographic parameters LAVI and LASr (r = -0.676, p &amp;lt;0.001). P wave axis did not correlate with any other parameter, while PR segment duration was correlated with LASr (r = -0.399, p = 0.015). Regression analysis revealed correlation between LAVI and LASr (r2 = 0.457, p &amp;lt;0.001). Conclusions The current study suggests that despite the undisputed contribution of CMR in left ventricular iron load estimation, it may be less accurate in atrial iron status estimation. Considering the limitations of current CMR technology regarding the iron status of the thin atrial and right ventricular walls, our study highlights the role of speckle tracking in combination with CMR imaging for a more comprehensive evaluation of β-TM patients. Correlation table P axis PR segment T2* LAVI LASr P axis 0,151 (p = 0,373) 0,112 (p = 0.,508) -0,140 (p = 0,410) -0,117 (p = 0,489) PR segment 0,151 (p = 0,373) 0,051 (p = 0,766) 0,278 (p = 0,096) -0,399 (p = 0,015) T2* 0,112 (p = 0.,508) 0,051 (p = 0,766) 0,044 (p = 0,796) 0,253 (p = 0,131) LAVI -0,140 (p = 0,410) 0,278 (p = 0,096) 0,044 (p = 0,796) -0,676 (p &amp;lt;0,001) LASr -0,117 (p = 0,489) -0,399 (p = 0,015) 0,253 (p = 0,131) -0,676 (p &amp;lt;0,001) T2*: obtained by cardiac magnetic resonance imaging LAVI left atrial volume index (ml/m2) LASr left atrial strain at reservoir phase Abstract Figure. Correlation between LASr and T2*

Prevalence and distribution of major β-thalassemia mutations and HbE/β-thalassemia variant in Nepalese ethnic groups

BackgroundBeta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassemia major patients need a continuous blood transfusion and iron chelation to maintain the normal homeostasis of red blood cells (RBCs) and other systems in the body. Patients also require treatment procedures that are costly and tedious, resulting in a serious health burden for developing nations such as Nepal. MethodsA total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation system–polymerase chain reaction (ARMS–PCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels. ResultsThe most common mutations found (23%) were IVS 1–5 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8/9 (+G), Cd 16 (–C), Cd 41/42 (–TTCT), IVS 1–1 (G–T), Cd 19 (A-G), and Cd 17 (A-T) at 20%, 12%, 8%, 6%, 4%, 3%, and 1%, respectively. ConclusionThe results of this study revealed that Nepal's mutational profile is comparable to that of its neighboring countries, such as India and Myanmar. This study also showed that thalassemia could be detected across 17 Nepal's ethnic groups, especially those whose ancestors originated from India and Central Asia.

The Splenectomy Effects on Lipid Profile and Glucose Metabolism in the Major Thalassemia Patients

Background: Splenectomy is a common treatment for beta thalassemia. It not only eliminates many complications by reducing the need for blood transfusion, but also causes new complications that threaten the patients' health. The aim of this study was to determine if splenectomy could alter the lipid profile and glucose metabolism in beta thalassemia major patients. Methods: In this case-control study, 41 splenectomized and 42 non-splenectomized eligible beta thalassemia patients were selected from Zafar Thalassemia Clinic, Tehran, Iran. Anthropometric, demographic, and biochemical data were collected using standard methods. Physical activity and food intake were measured using International Physical Activity Questionnaire (IPAQ) and food frequency questionnaires (FFQ), respectively. Results: Demographic characteristics and dietary intake were not significantly different between the two groups. However, triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), very low density lipoprotein cholesterol (VLDL-C), TC/HDL-C, LDL-C/TG, and LDL-C/HDL-C ratios were significantly higher, but HDL-C was significantly lower in splenectomized patients (P &lt; 0.05). Furthermore, fasting blood glucose (P &lt; 0.39) and oral glucose tolerance test (P &lt; 0.53) did not significantly differ between the two groups. Conclusions: Reduced activity of the reticuloendothelial system and reduced removal of cholesterol might be the reason for higher plasma lipid profile and greater risk of cardiovascular diseases in splenectomized patients. On the other hand, glucose metabolism was not affected by splenectomy in adult patients. To clarify this relationship, prospective studies are suggested.

Ocular abnormalities in patients with beta-thalassemia: a prospective study

&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Beta thalassemia is severe genetic blood disorder caused by mutation in the gene encoding for the beta chains of haemoglobin and individuals with beta thalassemia require life-long red blood cell transfusions to survive which leads to hemosiderosis and affects all the organs in the body including eyes. The study aims to study ocular manifestations in these children and its correlation with age and serum ferritin levels.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A descriptive cross-sectional study was done in government medical college Jammu in 2014-2015 on 67 BTM children. Children below 3 years of age and with pre-existing ocular abnormalities, infections were excluded from the study. Ocular examination was done for any major eye abnormality, congenital malformations or trauma. Retinal examination was done using direct and indirect ophthalmoscope, changes were recorded.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;47.76% of children belonging to the group: 5-10 years, while only 5.97%, i.e., 4 in number pertained to the age group: &amp;gt;15 years. Lens opacity was seen in 29.85% of children. 31 children showed changes in retinal activity, while decreased visual acuity was also observed in 17 children. Iris was significantly affected in children with serum ferritin &amp;gt;2500 ng/ml. Even greater lenticular changes and opacities were observed in children with higher serum ferritin levels (&amp;gt;4500 ng/ml).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;As life expectancy for beta-thalassemia patients extends, regular monitoring of the progression of disease and symptoms to detect early changes in their ocular system is recommended, to achieve a better quality of life for this patient group.&lt;/p&gt;

AAV Joins the Rank of Genotoxic Vectors

AAV Joins the Rank of Genotoxic Vectors

Frequency of Hepatitis B, C and HIV Infections among Transfusion-Dependent Beta Thalassemia Patients in Dhaka.

Transfusion transmitted infections have remained a major deterrent to public health, particularly among the patients with transfusion-dependent Beta thalassemia in developing countries. Although proper donor selection through adoption of WHO-advised infection panel has lowered the rate of infections, the multi-transfused patients are not free of risk. In this study, we screened 148 transfusion-dependent Beta thalassemia patients to determine the frequency of Hepatitis C Virus (HCV), Hepatitis B Virus (HBV) and Human Immunodeficiency Virus (HIV) using the ELISA method. Among them, infected cases with HCV, HBV and HIV were 13.51%, 3.37% and 0%, respectively. Moreover, 2% of the patients were found to be co-infected with both HBV and HCV. The percentage of infections in the patients with frequent transfusion interval (≤30 days) was significantly higher (p < 0.0005) than that in the patients with less frequent transfusion intervals (>30 days). Immunochromatography (ICT)-based rapid test kits are usually used to screen and confirm these infections in the blood of the patients. However, ICT-based tests are not sensitive enough to detect the infections. So, a combination of both Nucleic Acid testing (NAT) and serological testing are suggested to significantly reduce the risk of viral infections during blood transfusion.

Prevalence of Red Blood Cell Alloimmunization Among Beta-Thalassemia and Sickle Cell Anemia Patients: a Study from Saudi Arabia.

The periodic transfusion of red blood cells (RBCs) is an essential supportive therapy for beta-thalassemia and sickle cell anemia (SCA) patients. Nevertheless, this therapy can cause some adverse effects, such as RBC alloimmunization. This study aimed to determine the prevalence of RBC's alloimmunization and frequency of Rhesus (Rh) and Kell (K) antigens among SCA and beta-thalassemia patients in Al-Madinah region of Saudi Arabia. A cross-sectional study was conducted on 137 multiple transfusion patients with SCA and beta-thalassemia, who attended two of the largest hospitals located in Al-Madinah, Saudi Arabia. Demographic and medical data were collected from medical files of patients. Blood samples were collected from patients and Rh and Kell typing were done. Also, antibody screening and identification tests were performed. There were 66 (48.18%) pediatric patients with mean age of 7.8 years, while adult patients were 71 (51.82%) with mean age of 24.5 years. RBC alloantibodies were found in 9 patients (6.57%), and the most frequent alloantibody was anti-K. Antigen e (99.05%) was the most common antigen, while the least common was the antigen K (3.81%). The association between age (pediatric and adult) and alloimmunization rates was insignificant. Although the RBC alloimmunization rate among SCD and beta-thalassemia patients in this study is low compared to other studies in Saudi Arabia and countries all over the world, it still warrants more attention. Phenotyping of donors/recipients' RBCs for K and Rh subgroups may reduce the risk of alloimmunization and increase the efficiency of blood transfusion.

Oral Rehabilitation of Beta Thalassemia Patient Treated Chair-side - A Case Report

Introduction: Thalassemia can be classified into alpha and beta depending on the reduced synthesis of alpha or beta chains present in hemoglobin (Hb),1 that results in reduced hemoglobin in body than normal. Aims: Aims at signifing the importance of timely dental treatment in Beta thalassemia patients. Case Report: Here we present a known case of beta thalassemia minor requiring a full mouth rehabilitation treatment performed dental chair-side. Discussion: Thalassemia minor patients inherit only a single beta-globin mutation and have a mild anemia.2 The evaluated predominance of β-thalassemia minor (carriers) in India is 3-8%, which transforms to 35-45 million carriers in 1.3 billion diverse population with culturally and linguistically multi-ethnic people.3. Conclusion: Several ethnic groups have a much higher prevalence of 4–17%.4 The Beta thalassemia minor cases usually go undetected and are often observed in tests for dental treatment or post-dental treatment.

Assessment of thyroid dysfunction in beta thalassemia patients

Background: Thalassemia is the most common inherited monogenic disorder in the world. The present study was conducted to assess thyroid dysfunction in thalassemia patients.Materials & Methods: 84 children with beta thalassemia major of both genders were assessed for serum total thyroxine (T4), thyroid-stimulating hormone (TSH) and Serum ferritin levels were obtained. TSH and T4 concentration were analyzed by ELISA.Results: There were 64 euthyroid and 20 hypothyroid patients. 40 male and 24 females euthyroid patients and 12 males and 8 hypothyroid patients. The difference was significant (P

Association of Liver and Kidney Dysfunction with Beta-Thalassemia Patients

Beta-thalassemia is a category of hemoglobin synthesis disorders that are recessively autosomal. The most important cause of mortality and morbidity is these patients with thalassemic is organ failure related with shortened red cell life span, rapid iron turnover and tissue deposition of excess iron. The present study was carried out on a total of 50 thalassemic patients to evaluate liver function levels (GOT, GPT, ALP, TP, Alb) and kidney function such as (Urea, Uric acid and Creatinine). Seventy individuals of Iraqi adults were divided into two groups: 50 thalassemic patients (28 male and 22 female) (group 1) and 20 normal individuals (10 male and 10 female) as control (healthy group) (group 2). The results show a significant increase (p ≤ 0.01) in (GOT, GPT and ALP) while also showed a significant decrease (p ≤ 0.01) in T.p and Alb levels of thalassemia patients compared with control group. The mean values of Uera, Uric acid and Creatinine in thalassemic patients were (42.75 ± 3.37, 9.27 ± 0.63 and 1.31 ± 0.13) mg/dl respectively as compared with control group (22.25 ± 1.41, 4.90 ± 0.23 and 0.623 ± 0.04) mg/dl respectively. Also, the results showed the effect of duration of disease on (GOT and Urea) level in thalassemic patients (p ≤ 0.05). Also, this study has no significant differences between male and female patients in all parameters study and also the effect of age on parameters was studied.

Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents

&lt;abstract&gt; &lt;p&gt;Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with &lt;italic&gt;HFE&lt;/italic&gt; gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity. Beta thalassemia is caused by a mutation in the human beta globin gene. Imbalanced production of globin chain results in beta thalassemia, where the unpaired alpha chains precipitates in red cell precursors leading to ineffective erythropoiesis and reduced RBC survival. Both HH and beta thalassemia condition results in rapid accumulation of iron lead to iron overload in tissues and organs. The study aims to analyze the frequency of &lt;italic&gt;HFE&lt;/italic&gt; variants among beta thalassemia cases and their effect on iron overload. The frequency of three &lt;italic&gt;HFE&lt;/italic&gt; variants C282Y, H63D, S65C was analyzed by PCR RFLP method among Beta Thalassemia Trait (BTT) (n = 203), Beta Thalassemia Major (BTM) (n = 19) and age and sex-matched control samples (n = 200). The present study furnished allele frequency of H63D variant in BTT, BTM and controls 8.13, 15.8 and 6% respectively. Ten out of 33 heterozygous H63D variants exhibited iron overload with higher ferritin levels indicating &lt;italic&gt;HFE&lt;/italic&gt; variant might aggravate the absorption of iron. The C282Y variant was present in heterozygous state in 1 case among beta thalassemia carriers. The C282Y variant was absent among BTM and control cases. S65C &lt;italic&gt;HFE&lt;/italic&gt; variant was absent in the present study. Iron overload was completely absent in the control cases among all three &lt;italic&gt;HFE&lt;/italic&gt; genotypes. Hence it is inferred from the present investigation, analysis of &lt;italic&gt;HFE&lt;/italic&gt; genes and iron status will remarkably help to reason out the probable reason behind the iron status and support in proper management of beta thalassemia cases.&lt;/p&gt; &lt;/abstract&gt;

Evaluation of the relationship between hepatic and cardiac iron overload with MRI T2* and carotid intima media thickness with Doppler ultrasound in beta thalassemia major patients

Background: Iron overload is caused early progression of atherosclerosis in beta thalassemia patients due to regular repeated blood transfusion. MRI T2* is a gold standard non-invasive method for detecting hepatic and cardiac iron overload. The aim of this study was the comparison of carotid intima media thickness (CIMT) in the patients and healthy control groups with Doppler ultrasound for early diagnosis of atherogenesis. Another purpose was to assess the relationship between CIMT and iron overload among patients. Materials and methods: This cross-sectional study was performed on twenty patients referred to the Sarvar clinic and twenty age- and sex-matched control group. The CIMT was measured with Color Doppler ultrasound in both groups. Then, MRI T2* results, demographic, and therapeutic information were extracted from their documents. Results: CIMT was insignificantly higher in the patients compared to the control group. For example, it was 0.49 ± 0.05 vs. 0.45 ± 0.03 (p = 0.009) for the right common carotid artery (RCCA) and 0.48 ± 0.06 vs. 0.46 ± 0.04 (p = 0.17) for the left common carotid artery (LCCA). There was no strong relationship between CIMT and age (p = 0.09 for RCCA, p = 0.00 for LCCA), sex, chelation type (for example, p = 0.51 for RCCA with Desferal and p = 0.91 for LCCA with Desferal), age at diagnosis, age at the beginning on transfusion (p = 0.49 for RCCA, p = 0.20 for LCCA), age at the start of chelator (p = 0.74 for RCCA, p = 0.78 for LCCA), and hepatic and cardiac iron overload. Conclusion: Preventive and curative methods should be planned to cease its progression. Furthermore, early initiation of chelator drugs with better efficacy and compliance may reverse the hepatotoxic and adverse myocardial effects of excessive iron.