In this study we determined serum IL-8 levels in 18 untransfused patients with beta-thalassemia intermedia and in 14 subjects affected by HbH disease. As reported in polytransfused homozygous beta-thalassemia, untransfused beta-thalassemia and HbH disease show significantly (p < 0.005) higher serum IL-8 levels than normal controls. Our data suggests that there could be an intrinsic cause for th...

introduction: thalassemia is common in iran. appropriate therapy for this disease includes a regular blood transfusion and chelation therapy. however, patients will inevitably confront with side effects, particularly iron overloads in critical organ including heart, ductless glands and liver. this study tries to determine the prevalence of diabetes mellitus in transfusion dependent β thalassemi...

Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent beta-thalassemia) unlinked to the beta cluster interacting with the heterozygous beta thalassemia, was previously postulated in these families. Analy...

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutatio...

Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with b-thalassemia intermedia has substantially increased over the past decade. Earlier studies observed that patients with b-thalassemia intermedia experience a clinical-complications profile that is different from that in patients with b-thalassemia major. In this article, a variety...

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. Multivariate analysis was performed to study the risk of thalassemia In...

INTRODUCTION Renal involvement is a rare complication of β-thalassemia. Both tubular and glomerular dysfunction might occur in these patients. The aim of this study was to evaluate and compare kidney function in the major, intermedia, and minor variants of β-thalassemia. MATERIALS AND METHODS Renal tubular and glomerular function of 72 patients with β-thalassemia (25 major, 23 intermedia, and...

OBJECTIVE This study was conducted to assess bone mineral density (BMD) and bone mineral content (BMC) in patients with thalassemia major and intermedia, and to correlate them with biochemical and hematological profile. DESIGN 106 thalassemic patients (49 major and 57 intermedia) were scanned by dual energy xray absorptiometry technique for BMD and BMC at lumbar spine and femoral neck. The ef...

The clinical presentation of β-thalassemia intermedia phenotypes are influenced by many factors. The persistence of fetal hemoglobin and several polymorphisms located in the promoters of γ- and β-globin genes are some of them. The aim of this study was to evaluate the combined effect of the -158 Gγ (C→T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with...

Similar to other forms of non-transfusion-dependent thalassemia, the diagnosis of β-thalassemia intermedia is associated with a state of iron overload. This occurs in the absence of regular transfusion therapy and is primarily attributed to increased intestinal iron absorption signaled by ineffective erythropoiesis and low serum hepcidin levels. Although iron accumulation in transfusion-indepen...