Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations

Molecular Spectrum of Beta-Globin Mutations in Transfusion-Dependent Patients with Thalassemia in Qazvin Province, Iran

Background: Beta thalassemia is a common inherited disease, resulting from one or more of 200 different mutations in the beta-globin gene. Qazvin province has attracted migrations of several different populations due to industrialization during the past five decades. The aim of this study was to define the molecular spectrum of beta-thalassemia mutations in Qazvin province. Methods: Ethylen dia...

Malignancies in patients with beta-thalassemia major and beta-thalassemia intermedia: a multicenter study in Iran.

BACKGROUND Beta thalassemia is one of the most common genetic disorders in the world. The aim of this study was to determine the frequency, characteristics, and pattern of malignancies in patients with beta thalassemia major (BTM) and beta thalassemia intermedia (BTI) in Iran. METHODS We conducted a multicenter study via a retrospective chart review of patients with BTM and BTI between 2002 a...

THE SPECTRUM OF BETA – THALASSEMIA MUTATIONS IN IRAN

Thalassemia intermedia resulting from a mild beta-thalassemia mutation.

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 ...

Beta-thalassemia intermedia associated with moyamoya syndrome.

Moyamoya syndrome (MMS) is a progressive disorder. We report a 19-year-old boy with beta-thalassemia who presented with a left hemiparesis. Brain MRI showed old middle cerebral artery and left frontal subcortical white matter infarcts. Brain magnetic resonance angiography and digital subtraction angiography revealed occlusion of the bilateral internal carotid arteries with a rich network of bas...