scholarly journals Thyroid Function in Chronically Transfused Children with Beta Thalassemia Major: A Cross-Sectional Hospital Based Study

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Suraj Haridas Upadya ◽  
M. S. Rukmini ◽  
Sowmya Sundararajan ◽  
B. Shantharam Baliga ◽  
Nutan Kamath
Keyword(s):  
Thyroid Function ◽  
Serum Ferritin ◽  
Subclinical Hypothyroidism ◽  
Thyroid Dysfunction ◽  
Genetic Disorder ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
P Value ◽  
Blood Transfusions ◽  
Beta Thalassemia Major

Background. Thalassemia is the most common genetic disorder worldwide. Use of iron chelators has improved survival but endocrine complications have become more frequent. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30 %. Thyroid dysfunction mainly occurs by gland infiltration, chronic tissue hypoxia, free radical injury, and organ siderosis. Objectives. (a) To evaluate the thyroid function status in chronically transfused children with BTM, in the first and second decade of life and (b) to study the influence of factors like duration and amount of blood transfusions, serum ferritin level, and iron chelation therapy on thyroid function. Methodology. BTM children, 3 years old and above, on regular blood transfusions with serum ferritin > 1500 mcg/l were included in the study. Thyroid function and ferritin assessment was done using ELISA kits. Autoimmune thyroiditis was ruled out by antithyroid peroxidase and antithyroglobulin antibody testing. Results. A study population of 83 children consisted of 49 boys (59%) and 34 girls (41%). 4.8% of the children had evidence of subclinical hypothyroidism. Among them two belonged to the first decade and the other two to the second decade of life. Mean TSH, FT4, and ferritin values among children with thyroid dysfunction were 6.38 ± 0.83 mIU/ml, 1.08 ± 0.45 ng/dl, and 3983.0±1698.30 ng/ml, respectively. The severity of thyroid dysfunction was statistically significantly associated with higher serum TSH values in children in the second decade of life with a p value = 0.001. No other significant correlation was found between oral chelation, amount and duration of blood transfusion, or serum ferritin levels. Conclusion. Subclinical hypothyroidism was the thyroid dysfunction observed in our study. Regular blood transfusions with adequate chelation may decrease incidence of thyroid dysfunction.

scholarly journals Thyroid profile in patients of thalassemia with multiple blood transfusions and high serum ferritin: a cross-sectional study

2020 ◽  
Vol 7 (8) ◽  
pp. 401-408
Author(s):  
Dr. Rohit Khandelwal ◽  
◽  
Dr. Muralidhar Gundluru ◽  
Dr. Leeni Mehta K. ◽  
◽  
...  
Keyword(s):  
Serum Ferritin ◽  
Thyroid Dysfunction ◽  
Ferritin Level ◽  
Thalassemia Major ◽  
High Serum ◽  
The Body ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Thalassemia Major ◽  
Tsh Levels

Introduction: Beta-thalassemia major patients undergo regular blood transfusion resulting ingrowth faltering and various endocrine problems including thyroid dysfunction due to iron overloadin the body. This study was conducted to determine the frequency of thyroid dysfunction in childrenpresenting with Beta-thalassemia major on regular blood transfusions. Materials and methods:Sixty children were included with proven beta-thalassemia major who reported to the Department ofPediatrics, VIMS, and RC, Bangalore. Inclusion criteria: 1.Children 4 to 18 years age group .2.Thechild received transfusions for more than 2 years. 3.Children with serum ferritin level >700.Results: In this study, four patients(6.8%) had overt hypothyroidism, eight patients(13.6%) hadsubclinical hypothyroidism and 47 patients(79.7%) had euthyroid status. There was a positivecorrelation between Ferritin and T4, TSH levels. i.e., with an increase in Ferritin level, there was anincrease in T4, TSH levels, and vice versa. However, the correlation was significant with TSH. Therewas a significant negative correlation between Ferritin and T3 levels. i.e with an increase in Ferritinlevel, there was a decrease in T3 levels and vice versa. Conclusion: Thyroid dysfunction can exist inthalassemia patients on multiple transfusions and chelation therapy with high serum ferritin levels.Detection of hypothyroidism is important as inexpensive oral replacement therapy is readilyavailable. Hence regular screening of beta-thalassemia major patients for Serum T3, Serum T4,Serum TSH for early detection and timely treatment could improve the life expectancy and quality oflife of these patients.

scholarly journals Evaluation of the Thyroid Status and Types of Thyroid Dysfunction in Beta-Thalassemia Major Patients More Than 9 Years of Age in Wassit, Iraq 2020

2021 ◽  
Vol 9 (B) ◽  
pp. 1405-1409
Author(s):  
Ahmed I. I. Ansaf ◽  
Safa Faraj ◽  
Hussien A. Abdul-Azziz
Keyword(s):  
Short Stature ◽  
Serum Ferritin ◽  
Subclinical Hypothyroidism ◽  
Thyroid Dysfunction ◽  
Pearson Correlation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Thyroid Function Tests ◽  
Thyroid Status ◽  
Beta Thalassemia Major

Background: Hypothyroidism is one of the commonest endocrine complications that can happen in patients with Beta-Thalassemia Major (BTM) above nine years old which may pass hidden and untreated for years.   Aim: To evaluate the thyroid status and types of thyroid dysfunction in Beta-Thalassemia Major Patients above 9 years of age. Method: A Cross-Sectional study was performed on sixty-six randomly selected patients above 12 years of age with BTM in Al-Kut Heriditory Blood Disease Center at Wassit province from March to August 2020. Thyroid function tests were done (TSH, T3, and T4) to detect the thyroid status and identify patients with thyroid dysfunction and determine the type of hypothyroidism (Primary, central, Subclinical). Data collected include Age, Sex, weight, height, Serum ferritin and mean hemoglobin level, Type of chelation therapy, dose, compliance, and frequency of blood transfusion, other diseases such as Diabetes Mellitus, HCV, HBV, HIV, and Heart Failure were evaluated statistically. Results:   In the studied patients, Thirty-one patients (46.96%) were found to have hypothyroidism;( Seven of them (10.6%) had primary hypothyroidism, Sixteen(24.2%) had subclinical hypothyroidism and eight (12.1%) had central hypothyroidism).  Twenty-one (67.74 %) patients with Hypothyroidism were found to have stunted height or short stature (with significant p.value 0.03) from the 13 (41.9%) who had subclinical hypothyroidism.  By Pearson correlation, increasing serum ferritin levels significantly affect decreasing thyroxin (T4) levels with inverse correlation (P value 0.0001), (r)= -0.45. Conclusion:  in this study, there was a high prevalence of hypothyroidism in BTM and subclinical hypothyroidism is the most common type, which signifies the importance of regular screening and close supervision especially when high ferritin and or short stature are present.        

scholarly journals The power of three-dimensional printing technology in functional restoration of rare maxillomandibular deformity due to genetic disorder: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Daniel Oren ◽  
Amiel A. Dror ◽  
Tania Bramnik ◽  
Eyal Sela ◽  
Igal Granot ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Three Dimensional ◽  
Thalassemia Major ◽  
Functional Restoration ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Printing Technology ◽  
Three Dimensional Printing ◽  
Beta Thalassemia Major ◽  
Dimensional Printing

Abstract Background Thalassemia is an inherited autosomal recessive blood disorder causing abnormal formation of hemoglobin, known as a syndrome of anemia with microcytic erythrocytes. It is the most common genetic disorder worldwide, with a high prevalence among individuals of Mediterranean descent. The state of homozygosity of the beta-globin mutated gene is known as beta-thalassemia major, and these patients require regular blood transfusions and iron chelation therapy for survival. The rapid loss of red blood cells among affected individuals activates compensatory mechanisms of excessive medullary and extramedullary hematopoiesis, leading to severe skeletal bone deformity. Case presentation We present the case of a 39-year-old Bedouin male, diagnosed with beta-thalassemia major at infancy, with diagnosed homozygosity for the intervening sequence 2-1 (guanine > adenine) mutation. Since early infancy, he started receiving blood transfusions with a gradual increase in treatment frequency through adulthood due to the severe clinical progression of the disease. He was referred to the oral and maxillofacial surgery department at Galilee Medical Center to evaluate his facial deformity in the upper jaw and treat his severe periodontal disease. The patient presented maxillary overgrowth, and severe dental deformity resulted in progressive disfigurement and difficulty chewing, swallowing, and speaking. To address the challenge of surgical treatment, we utilized the advantage of three-dimensional planning and printing technology to simulate the optimal result. Resection of maxillary bone overgrowth and insertion of custom-made subperiosteal implants were followed by rehabilitation of both jaws to the patients' satisfaction at 3-year follow-up. Conclusions The ongoing implementation of state-of-the-art technologies such as virtual reality and three-dimensional printing has become a prominent component in surgical toolsets. Comprehensive case simulation and accurate planning before surgery will improve surgical results and patient satisfaction. This approach is highly advocated when approaching a case of rare maxillofacial deformity associated with either genetic or orphan diseases.

scholarly journals Status of glucose metabolism including insulin resistance and beta cell function in overtly iron loaded Thalassemia patients

2015 ◽  
Vol 10 (3) ◽  
pp. 29-36
Author(s):  
A Pan ◽  
SS Nag ◽  
BC Mondal ◽  
A Anindya Dasgupta ◽  
P Piyali Mitra
Keyword(s):  
Insulin Resistance ◽  
Glucose Metabolism ◽  
Serum Ferritin ◽  
Serum Insulin ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
P Value ◽  
Spleen Size ◽  
Fasting Serum ◽  
Beta Thalassemia Major

BACKGROUND Abnormality of glucose metabolism is a frequent complication in Thalassemia patients. Both insulin deficiency and insulin resistance has been proposed in its pathogenesis. Some form of abnormality in glucose metabolism is expected at an earlier age in these patients in developing countries like India and Nepal where iron overload is excessive due to lack of chelation therapy.MATERIALS AND METHODS Fasting serum glucose and fasting serum insulin (FSI) were measured in 40 beta-thalassemia major patients, 40 Ebeta- thalassemia patients and 40 controls, all aged between 5 and 12 years. 2 hours after an appropriate dose of oral glucose feed (Children ingested 1.75 g/kg body weight maximum 75 gram dissolved in 250 to 300 ml water) blood samples were drawn again to measure post prandial serum glucose. Iron overload was assessed by measuring liver size, spleen size, total amount of packed cells transfused and serum ferritin. Insulin resistance (IR), insulin sensitivity (%S) and beta cell functions (%B) were derived from the measured laboratory parameters using the latest version of Homeostatic Model Assessment (HOMA) calculator software.RESULTS No one had impaired glucose metabolism or diabetes mellitus beta-thalassemia major patients showed evidence of insulin resistance in the form of significantly higher fasting serum insulin (p value 0.002), IR (p value 0.003), %B (p value 0.017) and significantly lower %S (0.002) when compared with controls. FSI showed positive correlation with total amount of packed cells received (r=0.372, p=0.018), serum ferritin (r=0.345, p=0.029) and spleen size (r=0.427, p=0.006). Similarly, IR also showed positive correlation with total amount of packed cells received (r=0.388, p=0.013), serum ferritin (r=0.336, p=0.034) and spleen size (r=0.425, p=0.005). %S showed negative correlation with all these parameters. %B didn’t show any statistically significant correlation with these parameters.Ebeta- thalassemia patients didn’t have any statistically significant difference in FSI, IR, %S and %B than controls.CONCLUSION Insulin resistance develops as the earliest abnormality in glucose metabolism in overtly iron loaded beta thalassemia major patients at an early age. Ebeta- thalassemia patients with milder phenotype do not develop dysfunction of glucose metabolism at such an early age.Journal of College of Medical Sciences-Nepal, 2014, Vol-10, No-3, 29-36

scholarly journals Left Atrial Strain Identifies Increased Atrial Ectopy in Patients with Beta-Thalassemia Major

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 1
Author(s):  
Maria Vlachou ◽  
Vasileios Kamperidis ◽  
Efthymia Vlachaki ◽  
Georgios Tziatzios ◽  
Despoina Pantelidou ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Left Atrial ◽  
Systolic Pressure ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Tape Recording ◽  
Blood Transfusions ◽  
Systolic Strain ◽  
Peak Systolic Strain ◽  
Beta Thalassemia Major

Patients with beta-thalassemia major (β-ΤΜ) may develop cardiac arrhythmias through a multifactorial mechanism. The current study evaluated the association of cardiac structure and function on echocardiography with atrial ectopic burden on 24-hour tape recording in β-ΤΜ patients. This prospective study included consecutive β-ΤΜ patients. Demographic, laboratory, echocardiographic, cardiac magnetic resonance (CMR) T2* and 24-hour tape recording data were prospectively collected. The patients were classified according to the median value of premature atrial contractions (PACs) on 24-hour tape. In total, 50 β-TM patients (37.6 ± 9.1 years old, 50% male) were divided in 2 groups; PACs ≤ 24/day and > 24/day. Patients with PACs > 24/day were treated with blood transfusion for a longer period of time (39.0 ± 8.6 vs. 32.0 ± 8.9 years, p < 0.007), compared to their counterparts. Older age (OR: 1.121, 95% CI: 1.032–1.217, p = 0.007), longer duration of blood transfusion (OR:1.101, 95% CI:1.019–1.188, p = 0.014), larger LV end-diastolic diameter (OR: 4.522, 95% CI:1.009–20.280, p = 0.049), higher values of LA peak systolic strain (OR: 0.869, 95% CI: 0.783–0.964, p = 0.008), higher MV E/E′ average (OR: 1.407, 95% CI: 1.028–1.926, p = 0.033) and higher right ventricular systolic pressure (OR: 1.147, 95% CI: 1.039–1.266, p = 0.006) were univariably associated with PACs > 24/day. LA peak systolic strain remained significantly associated with PACs > 24/day after adjusting for the duration of blood transfusions or for CMR T2*. The multivariable model including blood transfusion duration and LA peak systolic strain was the most closely associated with PACs > 24/day. Receiver operating characteristic curve analysis identified a left atrial peak systolic strain of 31.5%, as the best cut-off value (83% sensitivity, 68% specificity) for prediction of PACs > 24/day. In β-TM patients, LA peak systolic strain was associated with the atrial arrhythmia burden independently to the duration of blood transfusions and CMR T2*.

scholarly journals A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ahmad Shoujaa ◽  
Yasser Mukhalalaty ◽  
Hossam Murad ◽  
Faizeh Al-Quobaili
Keyword(s):  
Molecular Analysis ◽  
Clinical Case ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Globin ◽  
First Report ◽  
Beta Thalassemia Major ◽  
First Case

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.

scholarly journals Study of pulmonary function tests in multitransfused children with beta thalassemia major: an observational study

2020 ◽  
Vol 7 (12) ◽  
pp. 2307
Author(s):  
Kavya Shivaswamy ◽  
Somashekhar Chikkanna ◽  
Jagdish Singh ◽  
Keerthana T. N. Gubbari
Keyword(s):  
Pulmonary Function ◽  
Pulmonary Function Tests ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Blood Transfusions ◽  
Beta Thalassemia Major ◽  
Function Tests ◽  
Asymptomatic Patients ◽  
Multiple Blood ◽  
Age And Sex

Background: Thalassemia is a hemoglobinopathy requiring multiple blood transfusions leading to iron deposition in various organs. Abnormalities in pulmonary function in thalassemia major patients have been found in various studies. Our aim was to study pulmonary function tests (PFT) in multitransfused children with beta thalassemia major.Methods: PFT was done in forty beta thalassemia major (TM) patients and forty normal healthy age and sex matched individuals and the results were analyzed.Results: Out of 40 thalassemia major patients, 20 (50%) had normal PFT and the rest 20 (50%) had an abnormal PFT out of which 18 (90%) had restrictive PFT and 2 (10%) had obstructive PFT.  Out of 40 controls, all 40 (100%) had normal PFT.Conclusions: Alteration of pulmonary function can be seen even in well-chelated TM patients. The respiratory system should be evaluated annually by PFTs even in asymptomatic patients to prevent pulmonary sequelae.

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