Mutations Associated with Beta-Thalassemia intermedia in Kuwait

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...

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...

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 ...

THE SPECTRUM OF BETA – THALASSEMIA MUTATIONS IN IRAN

Bone mineral density in beta-thalassemia major and intermedia.

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...