1. Calvaruso G, Vitrano A, Di Maggio R, et al. Deferiprone versus deferoxamine in thalassemia intermedia: Results from a 5-year long-term Italian multicenter randomized clinical trial. Am J Hematol 2015. doi: 10.1002/ajh.24024. [Epub ahead of print] 2. Taher AT, Porter J, Viprakasit V, et al. Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results...

Background: Expansion of bone marrow cavity and decreased cortical and trabecular bone tissues and osteoporosis are resulted from beta-thalassemia. The aim of this study was to assess bone mineral density (BMD) in patients with β thalassemia major and intermedia, and to determine their biochemical and hormonal profiles that may affect BMD. Materials and Methods: In a cross sectional study from ...

BACKGROUND Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. METHODS This cross-sectional descriptive stu...

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 ...

INTRODUCTION Iron overload is a major problem in patients with b-thalassemia major, and it has many structural and metabolic consequences. In this study, we aimed to consider the prevalence of endocrine abnormalities in patients with β-thalassemia major and thalassemia intermedia. MATERIALS AND METHODS We ordered following tests for consideration endocrine abnormalities: fasting plasma glucos...

Increased HbA2 is a characteristic finding in minor beta thalassemia. Minor β-thalassemia is a heterozygote form of β-thalassemia that carries thalassemia genes but does not cause thalassemia disease. Diagnosis of carriers is done by CBC, RBC Index, and HbA2 test. Very few cases of people with minorthalassemia have a normal HbA2. According to the results of this pilot study it seams that percen...

a, fi, and ‘i globin chain synthesis in bone marrow and peripheral blood reticulocytes were studied in two patients with thalassemia major, two with thalassemia intermedia, one with thaIassemia minor, one with Hb H disease, and one with homozygous f38-thalassemia. Nine nonthalassemic patients served as controls. In thalassemia major, a marked imbalance of ato fichain synthesis was found in the ...

Thalassemia is the most common hemoglobin disorder in the world and thalassemia major and intermedia stand among the most severe forms. Due to recent improvements in treatment, patients with thalassemia have longer life expectancies; hence it is of utmost importance to pay careful attention to their quality of life together with life expectancy. This study was conducted to assess the quality of...

In this article we report a Sardinian family, in which a beta-thalassemia gene and a triple alpha-globin loci, counterpart of the rightward deletion type alpha-thalassemia-2, were segregating. The analysis of the genotype-phenotype correlations in the different family members allowed us to give an outline of the manifestations associated with different genotype combinations. The heterozygote fo...

Introduction. Patients with β-thalassemia intermedia have a higher incidence of thromboembolic events compared to the general population. Previous studies have shown that patients with sickle cell disease, who are also prone to ischemic events, have higher intracranial arterial blood flow velocities measured by transcranial Doppler sonography (TCD). The aim of this study is to evaluate intracra...