Beta-thalassemia Major Children Research Articles

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 >5 transfusions. The median serum hepcidin level (2.354 ng/ml) was significantly higher among those with higher number of total transfusions (>5 transfusions). In addition, hepcidin level showed good positive correlation with total number of transfusions (r=0.608, p<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<0.001). Conclusions: In the present study, BTM children who received >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.

An Observational Study of Glomerular Functions in Beta-thalassemia Major Children by Schwartz Formula and Technetium 99m Diethylenetriaminepentaacetic Acid Renogram

Background and Aim: Kidney dysfunction is reported in significant number of beta thalassemia major children. The aim of this study was to determine the prevalence of glomerular dysfunction in beta-thalassemia major children on regular blood transfusion (BT) and chelation therapy, and to find the correlation between glomerular filtration rate (GFR) estimated by Schwartz formula and Technetium 99m diethylenetriaminepentaacetic acid (99mTc-DTPA) renogram with ferritin level and cumulative transfusion load. Materials and Methods: An observational cross-sectional study conducted was done on 110 children diagnosed with beta-thalassemia major receiving regular BT and chelation therapy. Clinical examination, biochemical investigations (serum creatinine, ferritin) and DTPA renal scan were done. Estimated GFR calculation was done by Schwartz method and 99mTc-DTPA scan. The normal values of GFR were taken from the standard value as per KDIGO guidelines. P < 0.05 was considered statistically significant. Results: The prevalence of glomerular dysfunction by Schwartz formula and DTPA renogram was 44% and 24%, respectively. The GFR calculation (Schwartz formula and DTPA renogram) were weakly positively correlated (r = 0.126, P = 0.547). There was significant association between GFR Schwartz and duration of iron chelation, as children with abnormal GFR had significantly more duration of iron chelation >5 years (28% vs. 4%, P = 0.003). GFR (Schwartz formula and DTPA renogram) showed no association with cumulative transfusion load and disease duration (P > 0.05). GFR Schwartz formula and GFR–DTPA showed no correlation with serum ferritin with r = 0.179, (P = 0.392) and r = 0.278 (P = 0.178). Conclusion: There is a significant derangement in the renal function of children of beta-thalassemia major on chronic BT and iron chelation therapy. GFR holds a direct correlation with the increasing duration of iron chelation.

Cardiac iron overload detection using longitudinal strain in asymptomatic children with beta thalassemia major.

Cardiomyopathy mediated by iron disposition in cardiomyocytes is a dreadful cause of morbidity and mortality in patients with beta thalassemia major (BTM). Conventional transthoracic echocardiography (TTE) parameters are preserved at late stages of cardiomyopathy induced by iron overload. Therefore, cardiac imaging modalities based on myocardial deformation such as strain imaging are used for early detection of cardiac iron overload. To demonstrate the contribution of longitudinal strain (LS) in early detection of cardiac iron overload in children with BTM. Sixty children (30 children with BTM and 30 healthy controls) were enrolled in this study. Conventional TTE study was performed in both patient and control groups. LV regional longitudinal strain (RLS) were determined and compared between the two study groups. Mean age was 10.4 ± 5years in BTM group compared to 10.2 ± 5years in control group (p = 0.876). Compared to control group, there was no significant difference in conventional TTE parameters except for indexed left atrium (LA) area and volume. LA was significantly larger in BTM children (27.59 ± 13.1ml/m2 vs. 18.23 ± 4.33ml/m2, p = 0.001). RLS was lower in anterior, septal and inferior walls in basal and middle segments of LV in BTM group while there was no significant difference in RLS in apical segment between the two groups (-27.30 ± 5.1 vs.-28.83 ± 4.33, p = 0.22). In asymptomatic BMT children with normal conventional TTE parameters, LS could be used for the detection of subclinical myocardial dysfunction.

The prevalence of HBG2 polymorphism among Beta Thalassemia major Children in El Minia Governorate and its correlations with HbF level.

The prevalence of HBG2 polymorphism among Beta Thalassemia major Children in El Minia Governorate and its correlations with HbF level.

Glycemic Abnormalities Assessment on Children and Adolescents with Beta-Thalassemia Major

Background
 Iron overloading in beta-thalassemia major individuals can cause organ damage. Iron excess can cause endocrine problems, including diabetes. Diabetes mellitus in patients with beta-thalassemia major represents a major concern, especially in children and adolescents.
 Aim
 To assess glycemic abnormalities in children and adolescents with beta-thalassemia major.
 Methods
 This cross-sectional study included beta-thalassemia major subjects with no previous diabetes mellitus history and routinely obtained blood transfusion. Laboratory investigations on the fasting insulin and blood glucose levels, 2 h postprandial plasma glucose, fasting insulin, and serum ferritin levels were conducted. Homeostatic model assessment of insulin resistance (HOMA-IR) was calculated for assessing insulin resistance. Statistically, a significant correlation was obtained if the p-value was <0.05.
 Results
 This research consisted of 56 beta-thalassemia major children. The mean age of the subjects was 9.46 (2-18) years old. At diagnosis, the mean age was 40 (3-180) months old. We found a significant correlation between serum ferritin and ages, body weight, height, diagnosis age, and blood volume per transfusion of the included subjects. Nevertheless, there was no significant correlation between serum ferritin with glycemic parameters, including fasting blood glucose, 2 h postprandial plasma glucose, fasting insulin levels, and HOMA-IR found with a p-value >0.05.
 Conclusions
 A significant correlation was identified between age at diagnosis and volume of blood per transfusion with serum ferritin levels. However, there was no significant correlation between serum ferritin levels with glycemic status.

Implementation, Patient Satisfaction and Usability of Telemedicine Services for Pediatric Thalassemia Cases in Balochistan During COVID-19 Pandemic and Beyond

<i>Background</i>: Telemedicine health service has revolutionized delivery of health care to the doorsteps of needy and deserving cases especially since the onset of the recent pandemic; COVID-19. Beta thalassemia major children require lifelong medical care, despite any untoward circumstances. Aim of this study is to identify role of telemedicine in diagnosing, treating and following-up of thalassemia cases and assess patient satisfaction. <i>Objective</i>: To assess implementation, patient satisfaction and usability of telemedicine health service for pediatric thalassemia cases in Northern Balochistan. <i>Study place and duration</i>: Study was carried out at District Headquarter Hospital Zhob from April 2021 to September 2021. <i>Material & methods</i>: Telemedicine service was established at Pediatric Department DHQ Hospital Zhob during COVID-19 pandemic. The data of all thalassemia cases that were managed/provided health care via telemedicine was collected and recorded. Patient satisfaction and usability of telemedicine service provided was assessed using a questionnaire prepared after thorough study of literature. The parents and care-givers of thalassemia cases treated via telemedicine were interviewed on mobile cell phones/telephone and the questionnaires were filled. Overall satisfaction was also gauged according to a scale from 1 to 5, where 1 depicted extremely dissatisfaction and 5 showed extreme satisfaction. The data was analyzed with Statistical package for social science (SPSS 21). <i>Results</i>: Total 347 patients of thalassemia received telemedicine health service during the study period. There were 182 (52.4%) males and 165 (47.6%) females with age range of 1 – 15 years (mean age 8.09 + 3.47 years). Total 289 (83.3%) telemedicine service seekers were residing in rural areas and rest 58 (16.7%) resided in urban areas. Ninety seven families (28%) belonged to poor class, 192 (55.35) belonged to lower middle class, 55 (15.9%) belonged to upper middle class and 3 (0.9%) belonged to rich class. Majority of participants (97.4%) were significantly satisfied with telemedicine service (p value 0.001). <i>Conclusion</i>: During current COVID-19 pandemic telemedicine has emerged as an exceptional alternate mode of healthcare delivery. It saves cost and time of travelling for thalassemia cases who require life-long hospital visits and follow-up. People have shown high satisfaction and positive attitude towards telemedicine health service provision.

Health-related quality of life of parents of children with beta-thalassemia major attending a tertiary care institution in Eastern India

Context: Chronic diseases such as beta-thalassemia major among children impact their parents in various ways, as they face continuous stress and strain while striving to provide their children with a best possible care. Literature related to health-related quality of life (HRQoL) among parents of children with beta-thalassemia major are limited among Indian population. Aims: This study aimed to assess the HRQoL of parents of children with beta-thalassemia major attending a tertiary care institution in Eastern India and its various correlates. Settings and Design: This cross-sectional study was conducted at a tertiary care institution in Eastern India. Materials and Methods: A sample size of 192 was selected using the simple random sampling among parents with children suffering from beta-thalassemia major who fulfilled the inclusion criteria. Study participants were interviewed regarding different variables and their HRQoL, using a predesigned, pretested, and semi-structured schedule and the Short Form 36 Health survey, respectively, after obtaining ethical clearance from the Institutional Ethics Committee and informed consent from them. Statistical Analysis Used: Data were entered in MS Excel and analyzed using IBM SPSS 20.0 version (Armonk, NY: IBM Corp). Results: The mean HRQoL score was found to be 38.7 ± 11.3 with an interquartile range of 23–59.7. The Spearman's rho correlation matrix showed that HRQol of parents is weakly positively correlated with the educational status of the father of the child (r = 0.2), educational status of the mother of the child (r = 0.1), family history of thalassemia (r = 0.2), ongoing treatment (r = 0.1), and duration of blood transfusion (r = 0.2). Conclusions: Hence, we can conclude that HRQoL of parents of beta-thalassemia major children was correlated with the educational status of the father and mother, family history of thalassemia, ongoing treatment, and duration of blood transfusion.

Bleeding Versus Thrombotic Tendency in Young Children With Beta-Thalassemia Major.

IntroductionBleeding and thrombotic events are known to occur in beta-thalassemia major (BTM) patients and have been attributed to hepatic iron overload associated with multiple blood transfusions. We evaluated hemostatic parameters in children with BTM who had no previous history of bleeding or thrombotic episodes.Materials and MethodsHemostatic parameters including prothrombin time (PT), activated partial thromboplastin time (APTT), platelet aggregation, protein C and S, iron profile, and liver function tests were evaluated in 54 children (median age = 12 months, age range = 4-144 months) with BTM and 15 age and sex-matched controls.ResultsThe mean PT and APTT of patients were significantly higher (P=0.016 and P <.001) than that of controls. Mean protein C, protein S activity and platelet aggregability with adenosine 5-diphosphate (ADP) as an agonist in patients were significantly lower (P <.001, P <.001 and P=0.007, respectively) than that in controls. Mean serum ferritin in BTM children was not significantly elevated to be associated with hepatic dysfunction.ConclusionDeranged hemostatic parameters indicative of bleeding and thrombotic tendencies are observed in BTM children from an early age and may not be solely due to hyperferritinemia-associated hepatic dysfunction. Despite the presence of deranged hemostatic parameters, a state of balance exists between bleeding and thrombosis, and an imbalance may lead to bleeding or thrombotic events at a later age.

Impact of consanguinity marriage on developing type 1 diabetes of beta thalassemia children

Objective: To find impact of consanguinity marriage on developing diabetes in a group of thalassemia children.&#x0D; Methodology: A cross sectional study carried out from October 2016 to June 2017at thalassemia centers of Lahore city. One hundred and fifty beta thalassemia major children with age range 4 to 8 years receiving regular blood transfusion were recruited by purposive sampling. Structured questionnaires were filled by the consented parents of children.&#x0D; Results: Among total number of thalassemia patients, the frequency of male was100 and of female was 50. The frequency of male and female diabetic thalassemia children was 25 (25 %) and 25 (50%) respectively. Frequency of general consanguinity was 148(98.66%). Weak correlation of fasting blood sugar with consanguinity in diabetic thalassemia children was observed. &#x0D; Conclusion: Consanguinity marriages may have a role on developing diabetes in thalassemia children.

Evaluation of Ischaemia Modified Albumin as a Marker of Oxidative Stress in Beta Thalassemia Major Children

&#x0D; &#x0D; &#x0D; &#x0D; Introduction: Iron overload in thalassemia catalyses the production of a variety of reactive oxygen species leading to cumulative cell damage. Ischemia modified albumin (IMA) is an end product of oxidative stress. It is imperative to pick up oxidative stress early in order to prevent the organ damage in thalassemia. Therefore this study was undertaken to estimate IMA levels and to see the correlation between ferritin and IMA to establish whether ferritin can be a proxy marker for oxidative stress.&#x0D; Methods: A total of 76 children were included in the study out of which 46 were diagnosed cases of β- Thalassemia major and 30 formed the healthy controls. Pre transfusion haemoglobin, AST, ALT, ferritin and IMA levels were estimated and compared with healthy control children. Correlation was drawn between haemoglobin, AST, ALT, ferritin with IMA.&#x0D; Results: There is significant elevation in the level of IMA and ferritin in children with Thalassemia major as compared to the healthy controls (p = &lt; 0.001). There was a significant positive correlation between ferritin and IMA and a significant negative correlation between haemoglobin % and IMA. Regression relationship between ferritin and IMA established that IMA (ng/ mL) = 246.118 + 0.829 (Ferritin ng/dL).&#x0D; Conclusions: IMA levels were significantly elevated in β- thalassemia major children and correlated positively with ferritin levels. By establishing a regression relationship between ferritin and IMA levels, we can fairly estimate the levels of IMA. Hence, we can utilise ferritin as a proxy marker of oxidative stress instead of IMA.&#x0D; &#x0D; &#x0D; &#x0D;

ALTERATION IN SERUM ZINC AND COPPER CONCENTRATIONS AND EFFECT OF ORAL THERAPEUTIC SUPPLEMENTATION OF ZINC ON TRANSFUSION DEPENDANT BETA THALASSEMIA MAJOR PATIENTS

Zinc is one of the essential micronutrients in human and act as a cofactor for more than 300 enzymes and plays an essential role in human growth and development. It has been observed that there was low serum zinc and elevated copper level in β-thalassemia major compared with normal. Zinc deficiency is considered one of the main factors contributing to growth, cardiovascular diseases, and puberty disorders in β-thalassemic patients. Aim: The goal of the study was to scrutinize the impact of serum zinc and copper concentration in patients with beta-thalassemia major and also to observe the effect of zinc supplementation on transfusion dependent beta-thalassemia patients for six months. Method: 52 beta-thalassemia major patients were studied before and after supplementation of zinc for six months, and status was compared with 52 age and sex-matched healthy normal. Serum zinc and copper concentration were measured by atomic absorption spectrophotometry (AAS) method. Result: There was a significant depleted activity of serum zinc level (p&lt;0.001), and the copper level was increased significantly (p&lt;0.001) in patients when compared with normal. After six months of supplementation of zinc, there was a significantly enhanced zinc concentration (p&lt;0.001),and copper was marginally increased (p&gt;0.05) when compared with normal and baselines. Conclusion: Beta Thalassemia major children are on numerous blood transfusions all the way through their life. Due to this thalassemic children are at risk of secondary iron burden. This further leads to the enhanced oxidative stress. One of the way to may overcome this situation to supply regular zinc supplementation along with treatment, which may be helpful to manage the situation.&#x0D;

ATTENUATION OF IRON OVERLOAD AND EFFECT OF ANTIOXIDANTS SUPPLEMENTATION ON OXIDATIVE STRESS IN HOMOZYGOUS β-THALASSEMIA

It has been projected that ferritin and iron yoke in homozygous thalassemic children is coupled with the enhanced free radical formation and blemished in antioxidative defense coordination. Aim: The purpose of the current study was to analyze the consequence of serum iron, erythrocyte catalase, and erythrocyte superoxide dismutase (ESOD) in patients with beta-thalassemia major. Method: 60 beta-thalassemia major patients were studied before and after supplementation of A – Z antioxidants for 20 weeks, and status were compared with 60 age and sex-matched healthy normal. Serum Iron estimation was carried out by Ramsay’s Dipyridyl Method. Estimation of erythrocyte superoxide dismutase was done by Kajari Das Method. The levels of Catalase concentration in erythrocytes were analyzed by the Goth method. All the objectives mentioned above were run by using a UV visible Spectrophotometer (Systronix). Results: A marked enhancement was seen in the intensity of serum iron, and superoxide dismutase (p&lt;0.001) with parallel decline was observed in the level of erythrocyte catalase (p&lt;0.001) in homozygous thalassemia patients when compared with healthy subjects. After 20 weeks of regular supplementation of antioxidants A-Z syrup, which consists of multimineral multivitamins, the concentration of catalase was increased whereas iron and ESOD (p&lt;0.001) were reduced significantly when compared with normal and baselines thalassemic patients. Conclusion: Due to multiple blood transfusions, beta-thalassemia major children are at advanced risk due to secondary iron surplus and intense oxidative stress. Such kind of circumstances may be handled with supplementation of antioxidants A-Z syrup with their regular treatment.&#x0D;

Serum ferritin as a diagnostic marker for cardiac iron overload among beta-thalassemia major children

Introduction: Beta-thalassemia major is the most common chronic hemolytic anemia. It is a well-comprehended fact that the toxic effects of iron overload particularly the cardiomyopathy are the major complication that roots from beta-thalassemia major children. Therefore, timely diagnosis is crucial to optimize the long-term gain. Objective: The objective of the study is to find the cutoff level of serum ferritin for early diagnosis of cardiac iron overload. Materials and Methods: This study was an observational analytical cross-sectional diagnostic study which was conducted from November 2016 to October 2018. With due approval of Institutional Ethics Committee and after taking proper informed consent from the parents and/or legal heir, 105 thalassemic children were enrolled in the study by simple consecutive sampling after satisfying the pre-defined inclusion and exclusion criteria. In this study, two-dimensional Doppler echocardiography was used to detect cardiac iron overload. Serum ferritin levels were estimated, and cutoff values were calculated for each of the echocardiographic parameters of cardiac iron overload, i.e. ejection fraction (EF), left ventricular end-diastolic diameter (LVEDD), and left ventricular end-systolic diameter (LVESD) by receiver operating characteristic curve analysis. Sensitivity (Sn), specificity (Sp), positive predictive value, and negative predictive value were calculated with considering p&lt;0.05 as statistically significant. Results: The mean age of the study participants was 9±3 years. Cutoff value of serum ferritin for detecting abnormality in EF was 3286 ng/ml with Sn of 76.1% and Sp of 88.1%. Similarly, for detecting abnormal LVEDD, cutoff value of serum ferritin was 4640 ng/ml with Sn of 70.1% and Sp of 98.6%, and for LVESD, it was 3286 ng/ml with Sn of 90% and Sp of 70.5%. Conclusion: The serum ferritin level can be used as a reliable marker of myocardial iron overload among childhood beta-thalassemia and hence can be used as an important screening tool.

BETA THALASSEMIA

Background: Inadequate Blood Transfusion is responsible for various problemsin children with Thalasseima. On the other hand, repeated transfusions are related with hazards.About 25-50% of the children with thalassemia major have impaired glucose tolerance (IGT)or diabetes. Objectives: To find out the frequency of IGT in children with blood transfusiondependent β thalassemia. Study Design: Descriptive analytical study. Setting: Department ofPediatrics, Shahida Islam Teaching Hospital, Lodhran. Period: 1st July 2017 to 31st December2017. Material and Methods: Known 120 cases of beta Thalassemia major children between3-17 years of age that were regularly transfused. Demographics, disease history and personalinformation regarding all the patients were collected. Glucose tolerance test was performedand Serum ferritin levels were measured. Results were analyzed by SPSS software version20.0. Results: There were 78 (65.0%) children between 3-10 years and 42 (35.0%) between11-17 years. There were 70(58.3) male and 50 (41.7%) female. Frequency of impaired glucosetolerance was noted in 15 (12.5%). Conclusion: Frequency of IGT is high amongst children withthalassemia major having regular blood transfusions.

Ocular mainifestations in multitransfused thalassemic children on chelation therapy

Background: Beta-thalassemia is the most common form of thalassemias. It is due to mutations involving the beta globin gene. The objective of this study was to study ocular manifestations in multi transfused thalassemic children and to assess the possible ocular side-effects with deferasirox.Methods: This was a prospective correlational study. After obtaining institutional ethical committee clearance, children with beta-thalassemia who came for regular blood transfusions were assigned into group A and group B based on whether they received deferasirox therapy or not. They were sent for detailed ophthalmological examination. The details about number of blood transfusions, serum ferritin and chelation therapy was obtained from the treatment records. The ocular manifestations were documented and later correlated to the blood transfusions, Serum ferritin levels and the chelation therapy. Results: Out of 50 children, 42 children belonged to group A and 8 belonged to group B. The male to female ratio was 2.2:1 in group A and 1:3 in group B respectively. The number of blood transfusions received was 67.7 versus 21.87 in group A and B respectively. The mean frequency of blood transfusions was 5.26 weeks vs 3.8 weeks in group A and group B respectively. Mean serum ferritin was higher in group A (912.19 mcg/l) compared to 665 mcg/l in group B. Out of 50 children7 had ocular findings (p value: 0.176), statistically not significant. All of them belonged to group A. Only 3 of them had lenticular opacities and 4 of them had refractory errors. The mean serum ferritin and the number of blood transfusions received were higher in children with ocular findings than in those with no ocular manifestations. Serum ferritin in those with lenticular opacities was 1363.66 mcg/l and in those with refractory error was 987.25mcg/l. The average blood transfusion received was 104.6 in those with lenticular opacities and 62.25 in those with refractory errors.Conclusions: Regular ocular examinations can aid in preventing, delaying or reducing the ocular complications in transfusion dependent beta-thalassemia major children.

Adherence to deferasirox among beta-thalassemia major children - A cross-sectional study in a tertiary care hospital

Introduction: Deferasirox, an oral iron chelator has been proved to be very safe and effective in beta-thalassemia major children on chronic blood transfusion (CBT); however, adherence to this medication has always been a challenge. Objectives: The aim of this study is to assess the adherence to oral iron chelator- deferasirox among beta-thalassemia major children receiving CBT by using selfreporting questionnaire and the factors associated with poor adherence to deferasirox. Materials and Methods: A cross- sectional study was conducted enrolling 91 beta-thalassemia major children (aged between 2 and 14 years, transfused with at least 20 units of packed red blood cell, on deferasirox therapy and serum ferritin greater than 1000 ng/ml) by simple consecutive sampling. Pretested interview schedule was used to collect information on sociodemographic status. Morisky Medication Adherence Scale was used to measure adherence. Data were entered in Microsoft Excel student 2017 and analyzed using SPSS software version 24. Results: About 7.5% (7) of the patients reported to be highly adherent, 48.4% (45) moderately, and 41.9% (39) were poorly adherent. The mean (SD) serum ferritin value was lowest (1281.71±326.85 ng/ml) in highly adherent children. Association betweenthe age and serum ferritin with adherence to deferasirox done using one-way ANOVA was found to be statistically significant among the three different groups (p=0.000). Illiteracy negatively affected the degree of adherence, while belonging to a nuclear family positively affected the degree of adherence to deferasirox. Conclusion: A very low-adherence level was observed in this study which needs to be improved through adequate measures.

Elevated plasma asymmetric dimethylarginine levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction

ABSTRACTObjectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbidity and mortality. Asymmetric dimethylarginine (ADMA) has been implicated in the pathogenesis of endothelial dysfunction and atherosclerosis. In this study, we aimed to investigate circulating ADMA concentrations in children with beta-thalassemia major.Methods: Thirty-one beta-thalassemia major children aged between 4 and 16 year old and age, gender-matched 36 healthy controls were enrolled in the study. Plasma ADMA was measured along with the soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), P-selectin, and Pentraxin-3.Results: Age, gender and body mass index were similar in two groups. Plasma ADMA, sVCAM-1, and sICAM-1 measurements were significantly higher in beta-thalassemia major patients than the control group (p < 0.004 for ICAM-1, p < 0.001 for other parameters). There were positive significant correlations between ADMA, sVCAM-1 and sICAM-1 (r = 0.437, p < 0.001; r = 0.544, p < 0.001; r = 0.405, p < 0.001, respectively) in the whole group.Discussion: The findings of the current study show us that increased plasma ADMA levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction and may play a role in the development of premature atherosclerosis in beta-thalassemia major patients.

Knowledge, practice and experiences of parents with a thalassemic child

Background: Thalassaemia is a chronic disorder requiring lifelong transfusions and medications causing emotional and financial burden to the family. This study was done to assess the knowledge and awareness of parents having a thalassemic child and to ameliorate their experiences in the upbringing of their child.Methods:A cross sectional, descriptive study was conducted in Pediatric Ward of a Tertiary care Hospital in Navi Mumbai from May-August 2016 in which parents of 40 beta Thalassemia major children between age group of 6 months to 15 years were enrolled. Parents were interviewed through a questionnaire to assess their knowledge, awareness, the practices they follow in regard to the transfusion, treatment, vaccination and prevention of thalassemia. The study also focuses on the emotional suffering of the parents.Results: 47.5% of parents were aware of thalassemia being a genetic disorder.62.5% were aware of regular blood transfusion. 23 parents were aware of the regular medications taken by their children. 42.5% parents had adequate knowledge of the optional vaccines to be taken. 90% parents followed a good practice of getting their child for regular blood transfusion and 92.5% gave them regular medicines.31 parents would periodically get their child investigated but 65% of parents lacked in giving optional vaccines to the child.60% agreed to undergo MTP while only 45% knew about the antenatal detection.Conclusions:Majority of parents followed good practice and had a positive attitude, though the knowledge and awareness about the disease was inadequate.

Parathyroid hormone in pediatric patients with β-thalassemia major and its relation to bone mineral density; a case control study

BackgroundThalassemia syndromes are heterogeneous groups of inherited anemias. Its treatment depends on recurrent blood transfusion with a problem of iron overload, which leads to multiple endocrinopathies including hypoparathyroid. The aim of the study is to estimate the level of serum parathyroid hormone and its relation to bone mineral density in transfusion dependent beta-thalassemia major children. Subjects and methodsWe measured serum calcium, phosphorus and parathyroid hormone in a sample of pediatric patients with thalassemia, compared them with age and sex matched healthy control. Measurement of bone mineral density by dual-energy X-ray absorptiometry was done in 2 sites: lumbar spine (L2–L4) in the anteroposterior position and left femur neck using Lunar Densitometry in osteoporosis Unit Ain Shams University Hospital for thalassemia patients. ResultsThalassemic patients had significantly higher alkaline phosphatase and lower bone mineral density. ConclusionOsteopenia in β-thalassemia major patients is multifactorial and is mainly predisposed by defective function of the parathyroid gland and excessive iron deposition.

The Role of the Carotid Doppler Examination in the Evaluation of Atherosclerotic Changes in β-Thalassemia Patients.

BackgroundIron overload in patients with beta-thalassemia major (BTM) lead to alterations in the arterial structures and the thickness of the carotid arteries. Doppler ultrasound scanning of extra-cranial internal carotid arteries is non-invasive and relatively quick to perform and may identify children at increased risk of stroke that would otherwise be missed. Increased carotid artery intima media thickness (CIMT) is a structural marker for early atherosclerosis and correlates with the vascular risk factors and to the severity and extent of coronary artery disease.ObjectiveTo evaluate the role of carotid Doppler examination and CIMT measurement as a predictor of atherosclerotic changes in BTM children with iron overload.Patients and MethodsSixty two children with BTM and, thirty age and sex matched normal controls were included. Complete blood count, ferritin, serum cholesterol were done, as well as carotid Doppler ultrasonography to measure the CIMT in both patients and controls.ResultsCIMT of thalassemic patients was significantly increased compared to controls (p=0.001). There was a significant positive correlation between CIMT and patient’s age, the duration from first blood transfusion, serum cholesterol and, iron overload parameters as serum ferritin, frequency of blood transfusion, iron chelation. The length of the transfusion period was the highest risk factor, and an inadequate iron chelation was a further risk factor. Significant negative correlation was found between CIMT and hematocrit value while no significant correlation was found between CIMT and weight, height, BMI centiles and Hb level.ConclusionCarotid Doppler is very useful in measurement of CIMT that increased in thalassemic patients that shows a strong relationship with features of iron overload. Routine Doppler measurement of CIMT in these patients is recommended to predict early atherosclerotic changes as well as in follow-up.