Study of thyroid function in Egyptian children with β-thalassemia major and β-thalassemia intermedia

2013 ◽  
Vol 88 (3) ◽  
pp. 148-152 ◽  
Author(s):  
Abdel-Rahman A. Abdel-Razek ◽  
Amina Abdel-Salam ◽  
Marwa M. El-Sonbaty ◽  
Eman R. Youness
Keyword(s):  
Thyroid Function ◽  
Thalassemia Major ◽  
Thalassemia Intermedia ◽  
Egyptian Children

scholarly journals Seroprevalence of Hepatitis C, Hepatitis B, Cytomegalovirus, and Human Immunodeficiency Viruses in Multitransfused Thalassemic Children in Upper Egypt

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Ramadan A. Mahmoud ◽  
Abdel-Azeem M. El-Mazary ◽  
Ashraf Khodeary
Keyword(s):  
Hepatitis C ◽  
Blood Transfusion ◽  
Hepatitis B ◽  
Thalassemia Major ◽  
Upper Egypt ◽  
Egyptian Children ◽  
Hiv Type 1 ◽  
Anti Hiv

Background. Frequent blood transfusions in thalassemia major children expose them to the risk of transfusion-transmitted infections (TTIs). The aim of this study was to estimate the prevalence of hepatitis C virus (HCV), hepatitis B virus (HBV), human immunodeficiency virus (HIV), and cytomegalovirus (CMV) in thalassemic children attending the Pediatrics Departments of both Sohag and Minia Universities of Upper Egypt, during the period from May 2014 to May 2015.Methods. Serum samples were screened for hepatitis B surface antigen (HBsAg), anti-HCV, anti-CMV, and anti-HIV type 1 and type 2 using the Vitek Immunodiagnostic Assay System.Results. The frequencies of anti-HCV, HBsAg, anti-CMV, and anti-HIV type 1 and type 2 were found to be 37.11%, 4.12%, 4.12%, 0.00%, and 0.00%, respectively. Seropositivity for anti-HCV, HBsAg, and anti-CMV increased with increasing age of the patients, duration of the disease, serum ferritin level (ng/mL), and liver enzymes (U/L), while it was not significantly associated with gender, frequency of blood transfusion, or the status of splenectomy operation (P>0.05).Conclusion. The frequency of TTIs, especially HCV, is considerably high among Egyptian children with thalassemia major. It is therefore important to implement measures to improve blood transfusion screening, such as polymerase chain reaction, in order to reduce TTIs from blood donor units.

Cardiac Involvement in β‐Thalassemia Major and β‐Thalassemia Intermedia

Hemoglobin ◽  
2004 ◽  
Vol 28 (2) ◽  
pp. 123-129 ◽  
Author(s):  
Mara Ferrara ◽  
Sofia M. R. Matarese ◽  
Barbara Borrelli ◽  
Angelo Perrotta ◽  
Gelsomina Simeone ◽  
...  
Keyword(s):  
Cardiac Involvement ◽  
Thalassemia Major ◽  
Thalassemia Intermedia

Assessment of serum zinc and copper levels in Egyptian children with β-thalassemia major

2021 ◽  
Vol 34 (1) ◽  
pp. 79
Author(s):  
SamahA Hassanein ◽  
KhaledM Salama ◽  
MaiH Kamel ◽  
SafaaM El Sayed
Keyword(s):  
Serum Zinc ◽  
Thalassemia Major ◽  
Egyptian Children

The Molecular Basis of Beta-Thalassemia Intermedia in Egyptian Children and its Association with the Clinical Phenotype

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Iman Ahmed Ragab ◽  
Shereen Mohamed Abd El-Ghany ◽  
Tarek Mostafa Kamal ◽  
Ghada Samir Abd El-Halim Elsayed
Keyword(s):  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Cross Sectional ◽  
Pediatric Hematology ◽  
Egyptian Children ◽  
Degrees Of Severity

Abstract Background β-thalassemia syndromes involve a collection of extremely diverse phenotypes. The term β-thalassemia intermedia (β-TI) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor thalassemia yet too mild to be termed major thalassemia. However, there remains substantial overlap between the three conditions. Aim of the Work To evaluate the variable clinical phenotypes among pediatric patients with βTI and to study the phenotype / genotype correlation with the encountered β-chain mutations. Patients and Methods A cross-sectional study was conducted on 37 Egyptian children and adolescents with TI following up regularly in the Pediatric Hematology clinic – Ain Shams University. Detailed Clinical evaluation and laboratory investigations were done. Reverse hybridization PCR based assay covering beta globin Mediterranean mutations onto specific biotinylated primers, was done. Results IVS 1.6 (T>C) was the most frequent mutation detected in 20 patients and 31 alleles (47.7%), followed by IVS 1.110 (G>A) detected in 7 patients and 8 alleles (12.31%), followed by IVS 1.1 (G>A) and CD27 knossos (G>T), each was detected in 6 patients and 6 alleles (9.23%). β+β+ was the most frequent genotype (54%), followed by β+β/β°β (21.6%) and β°β+ (13.5%). 60% of β°β+ patients had TDT(Transfusion dependent thalassemia), while 87.5% of β + β/β°β patients and 55% of β + β+ patients had NTDT ((Non transfusion dependent thalassemia). Conclusion Inheritance of mild β+ thalassemia mutations among Egyptian children; as IVS 1.6 (T>C) and IVS 1.110 (G>A) is the most frequent contributor to TI phenotype in either homozygous or compound heterozygous states. Patients with the same underlying genotype presented variable phenotypes with different degrees of severity.

scholarly journals SPECTRUM OF BETA GLOBIN GENE MUTATIONS IN EGYPTIAN CHILDREN WITH β- THALASSEMIA

2014 ◽  
Vol 6 (1) ◽  
pp. e2014071 ◽  
Author(s):  
MR El-Shanshory ◽  
Adel Abd Elhaleim Hagag
Keyword(s):  
Dna Sequencing ◽  
Blood Count ◽  
Complete Blood Count ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Direct Dna Sequencing ◽  
Rare Mutations ◽  
Egyptian Children

Background: The molecular defects resulting in β-thalassemia phenotype, in the Egyptian population show a clear heterogenic mutations pattern. PCR based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis.The aim of the work: was to evaluate the different β-globin gene mutations in one hundred Egyptian children with β-thalassemia. Patients and Methods: One hundred of β-thalassemic Egyptian children, covering most Egyptian Governorates. All patients were subjected to meticulous history taking, clinical examinations, complete blood count, complete blood count, hemoglobin electrophoresis, serum ferritin and direct fluorescent DNA sequencing of β-globin gene to detect the frequency of different mutations in studied patients. Results: The most common mutations among patients were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A)19%,IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%, codon"Cd"39(C> T) 4%,-87(C>G) 3% and the rare mutations were: Cd37 (G>A), Cd8 (-AA), Cd29(-G), Cd5 (-CT), Cd6(-A), Cd8/9(+G), Cd 106/107(+G), Cd27(C>T), IVS II-16(G> C), Cd 28 (-C), Cap+1(A>C), -88(C>A), all of these rare mutations were present in 1%. There was considerable variation in phenotypic severity among patients resulting from interaction of different β° and β+mutations, 79(79%) patients were thalassemia major (TM) and 21(21%) were thassemia intermedia (TI), without genotype phenotype association. Conclusion: Direct DNA sequencing provides insights for the frequency of different mutations in β- thalassemic patients including rare and /or unknown ones.

scholarly journals EVALUATION OF GLUTATHIONE-S-TRANSFERASE P1 POLYMORPHISM AND ITS RELATION TO BONE MINERAL DENSITY IN EGYPTIAN CHILDREN AND ADOLESCENTS WITH BETA- THALASSEMIA MAJOR

2016 ◽  
Vol 8 ◽  
pp. 2016004 ◽  
Author(s):  
Seham Ragab
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Z Score ◽  
Glutathione S Transferase ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Egyptian Children ◽  
Z Scores

Background:Osteoporosis is a major problem in beta thalassemia major (TM) patients. Increased oxidative stress and its controlling genes were linked to osteoporosis. Glutathione S-transferase P1 (GSTP1),Ile105 Val variant  is a functional  mutation with  reduced ant-oxidative property  .No data are available about this variant  or its association with osteoporosis  among thalassemia patients yet. Objectives: The aim of this study was to investigate Ile105Val polymorphism and its possible association with bone mineral density (BMD) values in a group of TM  children. Methods:Thirty five TM patients and 30 age and sex matched healthy controls were included. Liver and renal functions, serum ferritin, calcium, phosphorous, alkaline phosphatase and osteocalcin were assayed. BMD was determined by DXA with calculation of  Z-scores at lumbar spine (Ls) and femoral neck (Fn).Height for age z- score (HAZ) adjusted BMD Z-scores were considered . GSTP1 Ile105Val polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism. Results:The relative frequency of 105 Val allele was significantly higher in TM patients than the controls (P<0.0001). Significant association between genotype subgroups and BMD parameters was detected. Mutant homozygotes had significant lower BMD , Z –score and haz -adjusted BMD  Z-score at both Ls and Fn compared to wild homozygotes ( Ps =0.029, 0.008, 0.011, 0.001,0.02, 0.001) with significant higher osteocalcin level compared to heterozygotes and wild homozygotes (P=0.012 and P=0.013,respectively). Conclusion:  The results indicated that 105Val allele was frequent among TM patients and could increase their susceptibility to osteoporosis. Large sample studies are required to confirm these findings.  

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 Globin Chain Synthesis in the Marrow and Reticulocytes of Beta Thalassemia, Hemoglobin H Disease, and Beta Delta Thalassemia

Blood ◽  
1972 ◽  
Vol 40 (1) ◽  
pp. 105-111 ◽  
Author(s):  
Mordechai Shchory ◽  
Bracha Ramot
Keyword(s):  
Bone Marrow ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Globin Chain ◽  
Thalassemia Intermedia ◽  
Thalassemia Minor ◽  
Order Of Magnitude ◽  
Hb H Disease ◽  
Chain Synthesis ◽  
Globin Chain Synthesis

Abstract α, β, and γ globin chain synthesis in bone marrow and peripheral blood reticulocytes were studied in two patients with thalassemia major, two with thalassemia intermedia, one with thalassemia minor, one with Hb H disease, and one with homozygous βδ-thalassemia. Nine nonthalassemic patients served as controls. In thalassemia major, a marked imbalance of α- to β-chain synthesis was found in the bone marrow as well as in reticulocytes. The imbalance, however, was slightly more evident in the latter. In the patients with thalassemia intermedia and minor the α- to β-globin chain ratios in the reticulocytes were of the same order of magnitude, despite the marked clinical differences between thalassemia intermedia and minor. A balanced synthesis was found in the bone marrow of the patient with thalassemia minor. The bone marrow globin synthesis in thalassemia intermedia was not studied. Contrary to that in Hb H disease and βδ-thalassemia, the imbalance was more apparent in the bone marrow. In the latter, no evidence for imbalance was detected in the reticulocytes. These results point out the need for further studies on globin chain synthesis in the bone marrow and reticulocytes of patients With the various thalassemia syndromes and the effect of the free globin chain pool on those results.

scholarly journals BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY

2013 ◽  
Vol 5 (1) ◽  
pp. e2013055 ◽  
Author(s):  
Ali Fettah ◽  
Cengiz Bayram ◽  
Nese Yarali ◽  
Pamir Isik ◽  
Abdurrahman Kara ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Thalassemia Intermedia ◽  
Turkish Children ◽  
Tertiary Center

Introduction: The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. Materials and Methods: 106 pediatric patients were analysed for β-globin gene mutations by using DNA analysis. Patients were classified as having β-thalassemia major or β-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions. Results: There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 – 22.3 years). Eighty-four (79.2%) patients had β-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having β-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (-CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of β-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del –AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41-42 (-CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(-C) (14.3%), and IVS II.745 (C>G)/ 5’UTR + 22 (G>A) (9.5%). Conclusion: Our hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole.

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