BETA THALASSEMIA

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 Carrier Detection by NESTROFT

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...

Beta thalassemia gene therapy using lentiviral vectors

Recent years, allogeneic bone marrow transplantation (BMT) has proved to be the successful cure for patients with thalassemia major, however this is restricted due to limited matched-related donor. Its complications include chronic graft-versus-host disease in 5-8% of patients. So, a molecular approach, such as gene therapy for direct normal beta globin gene transmission, seems quite promising ...

Endocrine Disorders in Beta thalassemia Major Patients

Background Thalassemia is the most common hereditary disorder worldwide. The patient's’ survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity on various organs including endocrine glands. The study aimed to investigate endocrine disorders in patients with Beta-thalassemia major in the Southern Khorasan province, Iran. Materials and Methods In this des...