Background: The advances in treatment regimes for thalassemic patients have increased the survival among them therefore osteoporosis has emerged as an important cause of morbidity. The aim of this study was to determine the prevalence of osteoporosis and osteopenia in patients with thalassemia from Zafar Adult Thalassemia Clinic, Tehran, Iran. Patients and Methods: In this cross sectional inve...

conclusions in patients with tm, bone widening, trabeculation, paraspinal masses and facial bone deformity were lower than patients with ti, whichcan be related to effectiveness of therapy with blood transfusion irrespective of its adverse effects in tm patients. results all radiologic findings were significantly higher in patients with ti compared to tm (p< 0.05). in patients with ti, only tra...

Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 lev...

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Hematological malignancies complicating β-thalassemia syndromes: a single center experience TO THE EDITOR: Only few reports have addressed the occurrence of hematological malignancies in patients suffering from β-thalassemia. We herein report two patients wi...

Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited a gene triplication, long-term transfusion therapy, and ineffective erythropoiesis were confounding factors.

Introduction Thalassemia is a common disease which treatment is often based on splenectomy. The risks associated with total splenectomy stimulated partial splenectomy as a potentially alternative therapy. Case presentation A 45 year-old female patient with long term follow-up for β thalassemia intermedia started to develop signs of hypersplenism and iron overload. A partial splenectomy was pe...

A women with beta-thalassemia intermedia, and iron overload following many years' treatment with oral iron, was treated with subcutaneous desferrioxamine. During the course of this treatment she developed tinnitus, which was considered to be a rare complication of the use of this chelating agent. The mechanism of this effect is not understood.

We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...

The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype-phenotype correlation will provide a better insight for the development of molecular therapy.