background heart failure is a major cause of death in thalassemia. the study aimed to determine the diagnostic value of n terminal pro b type natriuretic peptide (nt-pro bnp), to early diagnose the cardiac involvement in beta- thalassemia major patients. materials and methods  80 thalassemia patients aged 7 to 18 years old (patients group), and 80 healthy age and gender matched controls were en...

Background N-terminal pro–B-type natriuretic peptide (NT-proBNP) is a marker to evaluate the cardiac involvement in thalassemia. We aimed to evaluate conventional and tissue Doppler echocardiography findings and its relation to plasma NT-pro BNP, Ferritin and Iron levels in beta-thalassemia patients. Materials and Methods This study performed on 164 participants equal of major beta- thalassemi...

  Background   In respect to abnormalities in thalassemia patients and the effects of TNF_α, IL_6, and NT-pro-BNP on echocardiography findings the study aimed to investigate TNF_α, NT-pro-BNP and IL_6 correlations wit...

Background Heart failure is a major cause of death in thalassemia. The study aimed to determine the diagnostic value of N Terminal Pro B Type Natriuretic Peptide (NT-pro BNP), to early diagnose the cardiac involvement in beta- thalassemia major patients. Materials and Methods  80 thalassemia patients aged 7 to 18 years old (patients group), and 80 healthy age and gender matched controls were ...

background: n-terminal pro-brain natriuretic peptide (nt-probnp) is a sensitive biomarker for the detection of asymptomatic left ventricular (lv) dysfunction. since β-thalassemia major patients suffer from early diastolic dysfunction due to iron deposition of chronic blood transfusion, we tried to evaluate the correlation between the serum nt-probnp level and the severity of lv diastolic dysfun...

Medical advances in the management of patients with sickle cell disease, thalassemia, and other hemolytic anemias have led to significant increases in life expectancy. Improved public health, neonatal screening, parental and patient education, advances in red cell transfusion medicine, iron chelation therapy, penicillin prophylaxis for children, pneumococcal immunization, and hydroxyurea therap...

Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...

Thalassemia is associated with low antioxidant enzyme deficiency especially glutathione peroxidase. GPX exists in 6 isomeric forms out of which GPX1 Single Nucleotide Polymorphism is found to be associated with Thalassemia major. In our study, the determination of the allelic frequency and phenotype of a common polymorphism in Se-dependent glutathione peroxidase 1 (GPX1) was observed in Thalass...

Mutations within exon 3 of the @-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia-like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG + CCG) at codon 1 14 resulting in a leucine to proline substitution and designate it @Durham-NC B1 14 Leu + Pro]. The mutation producing this thalassemic h...

We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and the Hb Policoro, α2 cod124 TCC>CCC or α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype and abnormal hemoglobin stability features. These mutations occurred in the G and H helices of the α-globin both involved i...