Beta Thalassemia Major Research Articles

Effectiveness of topical 25% silver nitrate solution followed by 5% fluoride varnish compared to 38% silver diamine fluoride in arresting and preventing dental caries among beta-thalassemia major patients: A randomized clinical trial

IntroductionThis is the first randomized non-inferiority clinical trial in the evidence literature to examine the effectiveness of topical 25% silver nitrate (SN) followed by 5% sodium fluoride (NaF) varnish is not much worse or acceptable to 38% silver diamine fluoride (SDF) in preventing and arresting dental caries among Beta-Thalassemia Major (BTM) patients. Method170 BTM participants aged 18 years and older with at least 1 or more active carious lesions were randomly allocated into 2 groups (1:1). 25% silver nitrate solution application followed by 5% NaF varnish was administered to Group I, and Group II received 38% SDF. The Nyvad criteria and DMFT index were used to assess caries arrest and prevention among both groups at 3- and 6-months interval. ResultsCaries arrest rate at 3 months was significantly higher in Group I (83.10%) when compared to Group II (76.16%) (p<0.05). While at 6 months, both the groups were comparable with arrest rate (76.16%) (p>0.05). The caries increment was comparable among both groups at 3 months, while at 6 months, caries increment was almost half in SN with NaF group compared to SDF group (p>0.05). Kaplan–Meir survival estimated the median survival time for caries increment was 17 and 39 weeks for Group I and 15 and 36 weeks for Group II at 3 and 6 months, respectively. ConclusionOne time application of 25% SN followed by 5% NaF is no worse than a 38% SDF in arresting and preventing dental caries among Thalassemia Major participants at 3 and 6 months. Clinical SignificanceThe study provides clinicians with a cost-effective, safer, readily available, non-invasive treatment option (25% SN followed by 5% NaF) for caries management.

An Investigation of Group-Based Mobile Learning on Stress, Anxiety, Depression, and Pain Among Beta-Thalassemia Major Patients: A Randomized Control Trial.

Beta-thalassemia major (B-TM) is an inherited hematological disease that affects nearly 300 million people worldwide. This study aimed to evaluate the effects of group-based mobile learning on stress, anxiety, depression, and pain among beta-thalassemia major patients. This randomized clinical study was conducted on 48 patients with beta-thalassemia major in Jahrom, Iran. Participants were randomly assigned to the control and intervention groups. Their partners in the intervention group were trained in self-care through mobile learning. The 21-item Depression, Anxiety, and Stress Scale and a visual analog scale for pain assessment were used to collect the data. Data were analyzed using the Statistical package for the Social Sciences version 23.0. Although there was no significant difference between the control and intervention groups in the mean pre-test scores of depression (P = .21), anxiety (P = .05), stress (P = .48), and pain (P = .46), the mean post-test scores of depression, anxiety, and stress in the intervention group were significantly lower than the control group (P = .0001). The mean scores of depression (P = .33), anxiety (P = .74), stress (P = .83), and pain (P = .6) did not change significantly in the control group, while all these mean scores decreased significantly in the intervention group for DASS (P = .001) and pain (P = .002). Group-based mobile learning is effective in reducing depression, anxiety, stress, and pain in B-TM.

Bone Mineral Density, Osteoporosis Prevalence and Influential Factors in Osteogenesis in Patients with Beta Thalassemia Major: A Cross-Sectional Study.

Osteoporosis and osteopenia considered as severe problems in Beta thalassemia major (BTM) that can lead to bone fractures. We aimed to investigate bone mineral density status and the laboratory parameters related to bone metabolism in BTM patients and compare the statically differences between the mentioned parameters in the patients with or without bone fractures. The results of laboratory parameters including; Hemoglobin (Hb), Calcium (Ca), Vitamin D (Vit D), Phosphorus (P), Magnesium (Mg), Alkaline Phosphatase (ALP), Ferritin (FER), Serum Iron (SFe), Thyroid Stimulating Hormone (TSH), T3, T4 and Parathyroid Hormone (PTH), and BMD (by using Dual-Energy X-ray Absorptiometry (DEXA) method) were investigated in 143 BTM patients from thalassemia center of Dezful University of Medical Sciences in 2023. Seventy-two women and 71 men with confirmed BTM diagnosis with age range (32.4 ± 9.7) were entered in the study. Laboratory parameters including TSH, T3, T4, ALP, FER 247) and SFe showed a significant difference between fracture and non-fracture groups respectively (P≤0.05). In this study, Z-Score between -1.1 and -2.4 was considered osteopenia, and below -2.5 was osteoporosis. Among the studied patients 36.6%, 39.1% and 24.2% had normal bone density, osteopenia and had osteoporosis respectively. Osteopenia and osteoporosis had a high frequency among the studied patients that can prone them to bone fractures. Continuous examinations of laboratory tests, especially T3, T4, TSH, FER, SFE, can be helpful for faster diagnosis and therapeutic interventions to prevent the occurrence of osteopenia and pathological fractures.

Soluble fms-like tyrosine kinase-1 as a predictive marker for iron overload in adult patients with transfusion-dependent beta-thalassemia major

Background The excessive iron accumulation has been identified as a contributing factor in the development of several issues in individuals with beta thalassemia, as those affecting the heart, liver, and endocrine glands. Soluble fms-like tyrosine kinase-1 (sFLT-1) belongs to the family of vascular endothelial growth factor receptors and acts as an inhibitor of signaling mediated by vascular endothelial growth factor and placental growth factor. The condition of iron excess has been associated with the potential to induce low-grade inflammation. The observed inflammatory condition is noteworthy due to the shown ability of sFLT-1 to stimulate a pro-inflammatory reaction. Consequently, this phenomenon could clarify the association between iron overload, inflammation, and elevated sFLT-1 levels in individuals with thalassemia. Aim The purpose of this work was to assess role of sFLT-1 as a predictive marker for iron overload in adults with transfusion-dependent beta-thalassemia major (BTM). Patients and methods Forty-five transfusion-dependent BTM patients were recruited and divided into 15 poor-chelated individuals with levels of serum ferritin more than 2500 ng/ml and 30 well-chelated individuals with levels of serum ferritin less than 2500 ng/ml. Serum sFLT-1 was measured using the enzyme-linked immunoassay technique. Results Serum sFLT-1 was substantially greater in the poor-chelated beta thalassemia compared with well chelated. sFLT-1 at a cutoff-value of 8.09 pg/ml had a high-diagnostic efficacy to differentiate poor chelated from the well-chelated group. Conclusion Elevated sFLT-1 levels may act as a biomarker for poor iron chelation in transfusion-dependent BTM patients.

Correlation between plasma biochemical parameters and cardio-hepatic iron deposition in thalassemia major patients

Introduction Major Thalassemia patients suffer from iron overload and organ damage, especially heart and liver damage. Early diagnosis and treatment with a chelator can reduce the complications and mortality of iron overload. Therefore, we aimed to investigate the biochemical and hematological predictors as an alternative and indirect indicator of iron deposition in heart and liver cells in comparison with the MRI T2* method as the gold standard. Material and method MRI T2* was evaluated in the heart and liver tissues of 62 major beta-thalassemia patients undergoing regular transfusion and chelator therapy. Biochemical and hematological factors were also measured, including serum ferritin, serum electrolytes, liver enzymes, hemoglobin, blood glucose, and serum magnesium. The correlation between these factors was assessed using statistical evaluations. Result Serum ferritin had a positive and significant correlation with liver siderosis based on MRI T2* (p-value = .015), and no significant association was observed with cardiac siderosis (p-value = .79). However, there was a significant positive correlation between cardiac iron deposition and fasting blood sugar level (p-value = −.049), and plasma level of liver enzymes (alanine aminotransferase (ALT) (p-value = .001), aspartate aminotransferase (AST ((p-value = .01)). Moreover, there was a significant negative correlation between cardiac iron overload and plasma magnesium level (p-value = .014). According to MRI T2*, there was no significant correlation between cardiac and hepatic iron overload (p value = .36). Conclusion An increase in blood sugar or liver enzymes and a decrease in serum magnesium was associated with an increase in cardiac iron overload based on MRI T2*. Liver iron overload based on MRI T2* had a significant correlation with serum ferritin.

Characteristics of markers of ovarian reserve in women with transfusion-dependent beta thalassaemia major with a successful pregnancy outcome

Objective: Spontaneous fertility and successful pregnancies have been reported in well-chelated and transfused women with beta thalassaemia major (BTM) however majority of women are sub fertile due to hypogonadotropic hypogonadism (HH) and lack of ovulation. Little is known about the effect of iron overload on ovarian follicles and whether ovarian reserve is affected by the condition or treatment. The predictive value of markers of ovarian reserve in relation to live birth in this group of women remains unclear. The aim of this study was to characterize the markers of ovarian reserve in women with transfusion-dependent beta thalassaemia major who had at least one successful live birth. Study design: This is a retrospective study in which we collected data from 12 women with transfusion-dependent BTM and at least one successful live birth from our thalassaemia clinic between July 2007 to June 2022. Patient demographics, medical history, menstrual history, hormonal parameters (serum levels of FSH, oestradiol, TSH and AMH) and antral follicle count were recorded. Serum levels of ferritin, cardiac T2*, liver iron concentration and thyroid function results were recorded from clinic visit prior to either natural conception or assisted conception treatments. Results: There was a wide variation in serum levels of AMH and antral follicle counts amongst women with BTM who had a successful live birth. Low serum AMH levels were noted in 4 women with HH with a background of BTM (33.3%) as compared to the established normal ranges for women of similar age. Also, low AFC counts were noted in 7 women (out of which 6 had HH) with BTM (58.3%) as compared to the established normal ranges for women of similar age. Conclusion: Levels of serum AMH and antral follicle counts appeared lower in up to half the women with BTM and hypogonadotropic hypogonadism with a successful live birth as compared to established normal ranges for women of similar age suggesting that these markers may not accurately reflect the ovarian reserve for all in this group of women. There are limited data about the predictive value of contemporary markers ovarian reserve such as serum AMH and AFC levels in predicting successful fertility or pregnancy outcomes in women with transfusion dependent BTM and larger studies are needed.

A Study of Serum Levels of Ferritin, Hepatic and Renal functions in Beta-Thalassemia Major (BTM) Patients Treated With Deferasirox (DFX) Tablets, Desferioxamine (DFO) Vial, or Combination of Both (DFX + DFO) in Thalassemia Center/Karbala

A Study of Serum Levels of Ferritin, Hepatic and Renal functions in Beta-Thalassemia Major (BTM) Patients Treated With Deferasirox (DFX) Tablets, Desferioxamine (DFO) Vial, or Combination of Both (DFX + DFO) in Thalassemia Center/Karbala

Evaluation of iron overload in visceral organs in thalassemia patients by point shear-wave elastography.

The aim of this study was to investigate the value of point shear-wave elastography (pSWE) in the measurement of iron overload in the liver and other visceral organs in patients with beta thalassemia major (BTM). The study included 103 patients diagnosed with BTM who were referred to our clinic for cardiac and liver T2* measurement and a control group of 120 age- and gender-matched healthy volunteers. Cardiac and hepatic T2* measurements were performed in the patient group. Hepatic, pancreatic, splenic, and renal pSWE values were measured in both groups. The pSWE values were compared between the two groups. In the patient group, correlations between pSWE values, cardiac-hepatic T2* values and hepatic size, patient age, and serum ferritin levels were analyzed. Hepatic, pancreatic, splenic, and renal pSWE values were significantly higher in the patient group compared to the control group (p ≤ 0.001, < 0.001, 0.014, 0.026, respectively). In the patient group, hepatic pSWE values established a significant correlation with cardiac T2* values, liver size-T2*, pancreatic pSWE values, serum ferritin levels, and age (p = 0.006, < 0.001, 0.001, 0.042, 0.001, 0.032, respectively). In the ROC analysis, the area under the ROC curve was 0.807 for hepatic pSWE in the discrimination of thalassemia patients and healthy controls, and the cut-off value was 1.42, which gave a sensitivity and specificity of 75.7% and 75%, respectively. CONCLUSıON: Point shear-wave elastography can be a useful technique in the clinical measurement of iron overload in the liver, pancreas, spleen, and kidney.

Ceruloplasmin levels in β-thalassaemia major: therapeutic insights and implications for iron homeostasis

Ceruloplasmin (CP) is an enzyme that has ferroxidase activity and is important in maintaining iron homeostasis and serving as a copper-transporter in the bloodstream. Beta-thalassemia major (BTM), a common hereditary disorder in Iraq, can affect CP activity in patients with iron overload resulting from frequent blood transfusions in order to sustain haemoglobin levels. The current study is a single-center observational research. CP activity was measured in 304 patients (120 females and 184 males). Anthropometric indices were recorded and the iron load status was determined by measuring serum ferritin. Ninety-two healthy individuals were also included as a control group. Our findings re¬vealed no relationship between age, body mass index, or plasma ferritin and CP activity in BTM patients. No significant influence of sex on CP activity was observed. The outcomes provide insight into assumed pathways regulating CP, and add to the growing body of research on CP’s contribution to iron metabolism in BTM patients. To our knowledge, this work is the only study of its kind in Iraq, provides the groundwork for upcoming studies and potential therapeutic lines by generating insightful data on the multifaceted relationships between iron homeostasis, CP, and BTM.

CORRELATION BETWEEN BETA - STIFFNESS INDEX AND ATHEROGENIC LIPID INDICES AS A MARKER OF SUBCLINICAL ATHEROSCLEROSIS IN PATIENTS WITH BETA THALASSEMIA MAJOR

Objective: Vascular impairment in patients with Beta-thalassemia major (BTM) is an extremely clinically relevant issue, associated with a high risk of accelerated atherosclerosis. Beta-stiffness index (BSI) is an echo-tracking parameter that can reveal increased carotid stiffness. To examine the beta-steffness index in patients with BTM and healthy controls. To analyze parameters of lipid metabolism and atherogenic lipid indices (Castelli Risk Index I, CRI-I, Castelli Risk Index II, CRI-II, Atherogenic index of plasma, AIP, Atherogenic coefficient, as a marker of cardiovascular risk in BTM patients compared with healthy controls and to find out correlations between the BSI and atherogenic lipid indices in patients with BTM. Design and method: 38 children and young patients with BTM (mean age 25.0±10.8 years, 20 female) and 40 healthy controls (mean age 23.1±11.0 years, 20 female). All subjects underwent carotid examination of beta-stiffness index by echo-tracking method with Aloka Hitachi prosound alfa 7, 7.5-MHz linear array of the right and left common carotid arteries about 1 cm proximal to the bulb. Blood test samples for lipid parameters – total cholesterol (TC), LDL, HDL, triglicerides (TG) were performed as well as calculations of the atherogenic lipid indices. Results: The mean AIP values in patients were 0.17±0.30 and in health controls -0,34±0.19, p=0.0001. The Castelli Risk index I in patients was 3.64±1.19 and in healthy controls was 2,75±0.74 (p=0.0001) –tabl.1. There was positive correlation between beta-stiffness index of both carotid arteries and some lipid parameters – tabl.2. Conclusions: Young adults with BTM are at increased risk of atherosclerosis and the subclinical impairment can be easily detected by methods of carotid ultrasound examination using beta-stiffness index and by atherogenic lipid indices.

Very low serum IGF-1 levels are associated with vertebral fractures in adult males with beta-thalassemia major.

Patients with beta-thalassemia major (BTM) often develop several endocrine disorders due to chronic iron overload. They are also prone to osteoporosis and vertebral fractures. Plasmatic insulin-like growth factor-1 (IGF-1) levels are often low in subjects with BTM, which origin is multifactorial. The aim of this study was to evaluate a possible relationship between serum IGF-1 levels and the presence of osteoporosis and/or vertebral fractures. We retrospectively evaluated the occurrence of vertebral fractures in 30 adult male patients affected by BTM (mean age 43.3 ± 7.9years) with low serum IGF-1 (median value 52.4ng/ml, 38.5-83.4). Only 6 of them (20.0%) were diagnosed with GH deficiency (GHD) after GHRH/arginine stimulation test, while 23 (76.7%) had osteoporosis and 12 (40.0%) had known vertebral fractures. All patients except one also showed at least one endocrine disorder. Serum IGF-1 was significantly lower in BTM patients with vertebral fractures compared to patients without vertebral fractures (U = 41.0, p = 0.005) while it was not significantly different between patients with low bone mass compared to patients without low bone mass. The diagnosis of GHD was significantly associated with lower serum IGF-1 (p = 0.001) and vertebral fractures (p = 0.002) but not with low bone mass. After ROC analysis, we found that very low IGF-1 (≤ 50.0ng/dl) was associated with vertebral fractures (sensitivity 83.3%, specificity 75.0%) and was also predictive of GHD (sensitivity 75.0%, specificity 100.0%). Our study shows that, in male patients with BTM, serum IGF-1 ≤ 50.0ng/dl is a marker of vertebral fractures and it is predictive of a diagnosis of GHD.

Fuzzy-Based Fusion Model for β-Thalassemia Carriers Prediction Using Machine Learning Technique

The abnormality of haemoglobin in the human body is the fundamental cause of thalassemia disease. Thalassemia is considered a common genetic blood condition that has received extensive investigation in medical research globally. Likely, inherited disorders will be passed down to children from their parents. If both parents are beta Thalassemia carriers, 25% of their children will have intermediate or major beta thalassemia, which is fatal. An efficient method of beta thalassemia is prenatal screening after couples have received counselling. Identifying Thalassemia carriers involves a costly, time-consuming, and specialized test using quantifiable blood features. However, cost-effective and speedy screening methods must be developed to address this issue. The demise rate due to thalassemia development is outstandingly high around the globe. The passing rate due to thalassemia development can be reduced by following the proper procedure early; otherwise, it significantly impacts the body. A machine learning-based late fusion model proposes the detection of beta-thalassemia carriers by analyzing red blood cells. This study applied the late fusion technique to employ four machine learning algorithms. For identifying the beta-thalassemia carriers, logistics regression, Naïve Bayes, decision tree, and neural network have achieved an accuracy of 94.01%, 93.15%, 97.93%, and 98.07%, respectively, by using the features-based dataset. The late fusion-based ML model achieved an overall accuracy of 96% for detecting beta-thalassemia carriers. The proposed late fusion model performs better than previously published approaches regarding efficiency, reliability, and precision.

How Age, Sex and Transfusion Affects the Incidence of Endocrine and Bone Density Disorders in Major Thalassemic Patients.

Beta-thalassemia major patients frequently have endocrinopathies. We tried to determine relation between demographic and transfusion factor and endocrinopathies. Major beta-thalassemia patients (n=114 cases), 3-38 yr of age, entered this study. Female to male ratio was 51/63. Children (less than 20 yr) formed 57% of participants. Information about bone mineral density (BMD) and hormonal and biochemistry blood evaluation including fasting blood sugar (FBS), ferritin, triiodothyronine (T3), thyroxine (T4) and thyroid-stimulating hormone (TSH), luteinizing hormone (LH) and follicle-stimulating hormone (FSH), testosterone (males), and estradiol (females) entered data sheet. Sex and ferritin level showed no significant correlation with above disorders. Age significantly correlated to short stature, diabetes, low BMD at femur and neck (P, 0.031, 0.008, 0.009 and <0.001, respectively) . The risk of short stature had increased in 12 yr and older patients 7.71 times than younger patients (P= 0.008). The risk of diabetes had increased in 35 yr and older patients 26.25 times than younger patients (P= 0.03). The risk of Z-score ≤ -2 in femoral region has increased in 19 yr and older patients 5.84 times than younger patients (P= 0.002). The risk of Z-score ≤ -2 in spinal region has increased in 14 yr and older patients 17 times than younger patients (P= 0.007). The main factor related with endocrinopathies was age. The correlation between age and short stature, diabetes and low BMD was positive. Therefore, we recommend early monitoring of thalassemia patients (in their late childhood and early teenage) for these complications.

Estimation of Microalbuminuria in Children with Beta Thalassaemia Major: A Cross-sectional Study

Introduction: Improvement in the standard of care of Thalassaemia by regular blood transfusion increases life expectancy. Multiple transfusions with concurrent iron overload and chronic anaemia, leading to tissue-level hypoxemia, cause significant renal dysfunction. Microalbuminuria is a sensitive marker of glomerular damage, and studies in thalassemic children have demonstrated variable prevalence rates of microalbuminuria. Aim: To study the prevalence of microalbuminuria and its association with clinical and laboratory parameters in children with Beta Thalassaemia Major (BTM). Materials and Methods: A cross-sectional study was conducted from January 2018 to June 2019 at Indira Gandhi Institute of Child Health, Bangaluru, Karnataka,India. A total of 155 children with Beta Thalassaemia Major (BTM) aged 2-18 years, attending the Thalassaemia Day Care Centre, were included in the study. Their demographic details such as age, gender, clinical parameters like frequency of transfusions, type of chelation therapy, height, weight, Body Mass Index (BMI), organomegaly, and laboratory parameters like serum creatinine, ferritin, pretransfusion Hb%, and Urinary Microalbumin Creatinine Ratio (UMCR) were studied as per a predesigned proforma. The association between microalbuminuria with clinical and laboratory parameters was evaluated using the independent sample T-test or Mann-Whitney U test and Chi-square/Fischer’s-exact test. Results: A total of 155 children with BTM were studied. In the present study, out of a total of 155 patients, microalbuminuria was found in 66 (42.6%). A significant increase in the prevalence of microalbuminuria was observed as the age advanced, as the frequency of blood transfusions increased, with low pretranfusion haemoglobin (g%), and with elevated serum ferritin. Conclusion: In the present study, the prevalence of microalbuminuria was found to be 42.6%. Screening for microalbuminuria is recommended in all children with beta thalassaemia major for the early detection of renal dysfunction, prevention of disease progression, and improvement in the quality of their lives.

Pubertal Development in Girls with Beta Thalassaemia and Assessment of the Adequacy of Chelation Therapy: A Quasi-experimental Study

Introduction: Beta thalassaemia is the most prevalent hereditary autosomal disorder, significantly impacting endocrine function during pubertal development. The pathology is rooted in the excessive deposition of iron in vital organs. If left untreated, this condition leads to serious morbidity and mortality. Hypogonadism stands as the most common endocrine complication. Aim: To observe pubertal development in girls with thalassaemia and evaluate the adequacy of chelation therapy in such patients by measuring levels of Follicle Stimulating Hormone (FSH), Luteinising Hormone (LH), oestrogen, and serum ferritin. Materials and Methods: A quasi-experimental study was conducted at the Thalassaemia Clinic at the Department of Obstetrics and Gynaecology, Burdwan Medical College, Purba Bardhaman, West Bengal, India involving 300 diagnosed Beta Thalassaemia Major (BTM) (case) patients aged 13 to 17 years over a period of one and a half years (January 2020 to June 2021). The girls in the study groups were sequentially enrolled from the Outpatient Department of the Thalassaemia Clinic after meeting inclusion and exclusion criteria. Demographic data, anthropometric measurements, and Sexual Maturity Rating (SMR) were recorded. Hormonal assays of serum FSH, LH, oestrogen, and serum ferritin levels were conducted. Thalassaemic girls with serum ferritin levels exceeding 500 ng/mL received chelation therapy. Serum ferritin levels were measured at two-month intervals for up to six months, with reassessment of serum FSH, LH, oestrogen, and ferritin levels at the end of the six-month period. Statistical analysis was conducted using Statistical Package for Social Sciences (SPSS) version 27.0, Microsoft excel spreadsheet, and Epi Info 7. Results: A total of 190 (63.3%) of the thalassaemic girls were aged 13 to 15 years, with a mean Body Mass Index (BMI) of 22.5000±2.6100 kg/m2 , and 74 of them (38.94%) experienced menarche in this age group. Out of 300 cases, 269 thalassaemic girls (89.6%) received chelation therapy, and 89 cases (33.09%) reached menarche after chelation therapy. A significant (p&lt;0.0001) increase in mean LH and FSH levels was observed after chelation therapy. The mean ferritin level decreased from 3168.85 ng/mL to 2227.24 ng/mL following chelation therapy. Conclusion: Pubertal development failure is common in beta thalassaemic girls. Intervention in the form of adequate chelation therapy in girls with high serum ferritin levels yielded favourable outcomes, as evident from serum gonadotropin and oestrogen levels.

The association of pro-oxidant/antioxidant balance and blood parameters in patients with beta-thalassemia major: a cross-sectional study.

Oxidative stress due to iron accumulation in patients with beta-thalassemia major (BTM) causes complications such as tissue damage and destruction. This study aimed to assess the association between the serum prooxidant/antioxidant balance (PAB) and blood parameters in patients with BTM. This cross-sectional study included 92 patients with BTM. In this study, PAB was measured using an enzyme-linked immunosorbent assay (ELISA). Serum ferritin, blood urea nitrogen (BUN), creatinine (Cr), alanine aminotransferase (ALT), aspartate aminotransferase (AST), thyroid-stimulating hormone (TSH), total cholesterol (TC), triglyceride (TG), complete blood cell count (CBC), and history of blood transfusion were recorded. The association of the blood parameters was assessed across the tertiles (T) of serum PAB (highest T vs. lowest T). The results showed that high serum ferritin was directly associated with serum PAB [odds ratio (OR), 12.80; 95% confidence interval (CI), 2.98‒54.91; T3 vs. T1]. Also, direct associations were found for high TC (OR, 4.97; 95% CI, 1.42‒17.32; T3 vs. T1), high ALT (OR, 4.95; 95% CI, 1.33‒18.46; T3 vs. T1) and high TSH (OR, 3.78; 95% CI, 1.10‒13.02; T3 vs. T1). The findings of the present study showed that serum PAB levels were directly associated with ferritin, ALT, TC, and TSH levels. This indicates that improvements in blood parameters, especially ferritin and TSH levels, occur by ameliorating oxidative stress in patients with BTM.

Role of serum hepcidin as a marker of iron overload in beta thalassemia major

Background: Beta thalassemia major (BTM) is the most common hemolytic anemia. Regular blood transfusion is a basic treatment modality, recurrent blood transfusion which leads to iron overload and its complications. Hepcidin hormone is found to be a key regulator of iron homeostasis and is significantly increased in children of BTM with iron overload. The main objective of the study is to find out the role of serum hepcidin as a potential marker of iron overload in children with BTM, and to correlate the relationship between serum hepcidin and serum ferritin level in BTM children. Methods: This was a hospital based prospective observational study conducted at Indira Gandhi institute of child health for 12 months from January 2019 to December 2019. Included 100 children between age group of 2 months to 18 years diagnosed with BTM on blood transfusion and 50 age and sex matched healthy controls. Results: In the study group 70% children had &gt;5 transfusions. The median serum hepcidin level (2.354 ng/ml) was significantly higher among those with higher number of total transfusions (&gt;5 transfusions). In addition, hepcidin level showed good positive correlation with total number of transfusions (r=0.608, p&lt;0.001). Also, serum hepcidin showed positive correlation with serum ferritin levels with 87% sensitivity and 88% specificity which was statistically significant (r=0.749, p&lt;0.001). Conclusions: In the present study, BTM children who received &gt;5 transfusions serum hepcidin level was significantly elevated and serum hepcidin showed positive correlation with serum ferritin levels. Thus, hepcidin can be considered as a potential marker of iron overload in patients with BTM.

Incidence, management and outcome of Hepatic Veno-Occlusive disease /Sinusoidal Obstruction Syndrome after hematopoietic stem cell transplant in Thalassemia major patients: A prospective study of Pakistani BMT.

Hepatic Veno occlusive disease (VOD), also known as sinusoidal obstruction syndrome (VOD/SOS), is a post-transplant life threatening complication. In this study, we aimed to discuss the incidence, management and outcome of VOD in post allogenic transplant patients of beta thalassemia major (BTM). A prospective study was conducted in Armed Forces Bone Marrow Transplant Center, between 2001-2022. A total of 385 fully Human Leucocyte Antigen (HLA) matched BTM patients, with Ursodeoxycholic acid for prophylaxis, were included in the study. Incidence of VOD was calculated through cumulative incidence estimates. Chi square test and Mann Whitney test were used to compare discrete and continuous variables respectively. VOD was diagnosed and graded according to European Society for Blood and Marrow Transplantation EBMT Pediatric diagnostic criteria. Risk factors for VOD were grouped as recipient, transplant and donor related. Univariate analysis was performed by log-rank test. All patients who developed VOD were managed primarily with fluid restriction and strict input output monitoring. Statistical analyses were performed using SPSS v 25.0. Out of 385 transplant patients, forty developed VOD. Median time from date of transplant till onset of VOD was 14 days (range 6-30). Cumulative incidence of all grade VOD was 10.39% (95% CI, 7-14). Eleven out of 40 patients who developed VOD died. Cumulative incidence of Transplant related mortality (TRM) for patients with and VOD was 20.5% (95% CI, 16.6-25.1) vs 27.5% (95% CI, 16.1-42) (p value 0.318) respectively. Among risk factors, age of recipient and fibrosis (p value of 0.04 and 0.000 respectively) were found to be significantly associated with VOD. Careful selection of transplant candidates before transplant can help reduce the incidence of VOD.

Study of thyroid functions in transfusion dependent thalassemia patients of pediatric age group with reference to serum ferritin level in a tertiary care centre

Hypothyroidism is one of the most common endocrine complication in transfusion dependent thalassemia patients. Its prevalence and severity is variable and the natural history is poorly described. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30%. To determine the levels of serum TSH and FT4 in patients with transfusion-dependent thalassemia (TDT), as well as their relationship to the degree of iron excess indicated by serum ferritin levels. This observational descriptive study was undertaken on 200 patients (5 to15 yrs of age) in the department of Pediatrics in SCB Medical College, Cuttack, Odisha, India from to after obtaining clearance from institutional ethical committee. Out of total 200 TDT children, 141(70.50%) were euthyroid and 59(29.50%) were hypothyroid. Among hypothyroid children, 9(4.5%) had overt hypothyroidism and 50(25%) children had subclinical hypothyroidism. In children &amp;#60;10 years of age group there was a positive correlation between serum ferritin and rise in serum TSH (p &amp;#60; 0.05, r= .553). The rise in serum ferritin was statistically not significant with fall in serum FT4 (p &amp;#60; 0.05, r= .122). In children &amp;#62;10 years of age group, there was positive correlation between serum TSH and serum ferritin (p &amp;#60; 0.05,r=.845). There was an inverse relation between rise in serum ferritin and fall in serum FT4 (p &amp;#60; 0.05, r= -.406). Hypothyroidism was associated in significant number of transfusion dependent thalassemia patients. Adequate iron chelation therapy to keep serum ferritin level within normal limit and early detection of hypothyroidism preferably below 10 years of age will prevent hypothyroidism and its complications in transfusion dependent thalassemia.

Case Report of a Child with Beta Thalassemia Major in a Tribal Region of India

Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required. Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia. Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.