INTRODUCTION The hemoglobin S (HbS) mutation is accompanied by other mutations in the region of chromosome 11 known as "beta globin cluster". The pattern of combination of these polymorphisms giving rise to the haplotypes that co-inherit the HbS mutation, are called haplotypes bs, and are of great epidemiological and clinical significance. OBJECTIVE The frequencies of major haplotypes associa...

We investigated the effects of the antiviral agent distamycin A and of a distamycin derivative (FCE 24517) which possesses antineoplastic activity on the binding of some regulatory proteins to DNA. Both compounds inhibited the binding to DNA of the ubiquitous octamer binding factor OTF 1 and of the erythroid specific GATAAG protein (NFE 1). This was shown using the electrophoretic mobility shif...

OBJECTIVE The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY DESIGN Beta-globin gene mutations and polymorphisms were analyzed in 97 carrier families and 100 control couples. Using conventional PCR-DGGE we ca...

problem owing to the wide prevalence of the disease in these regions.[1] β thalassemia is inherited as an autosomal recessive disorder, which results in reduction or absence in β globin chain.[2] Point mutation in the β-globin gene is the cause of β thalassemia inheritance in majority of cases, while short deletion in the same gene may occasionally be the cause. More than 200 mutations that res...

HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology, and...

Objective: Our aim was to identify the beta globin gene cluster haplotypes for the beta thalassemia mutations in Turkey on a regional level. Beta thalassemia mutations included in this study were IVS-I-110 (G>A), FSC 8/9 (+G), IVS-II-1 (G>A), IVS-I-5 (G>C), IVS-I-1 (G>A), IVS-I-6 (T>C), and FSC 8 (-AA). Methods: We studied 22 unrelated patients with β-thalassemia major and 72 unrelated healthy ...

T HE DISTRIBUTION of the percentage of a globin variant chains in humans is tnimodal, with maxima around 45%, 33%, and 25%’; the latter value is the most commonly found and comparison with the usual 45%-50% value for f3 globin mutants was the basis for the suggestion2 that a globin genes are duplicated in humans. Thus, the dyploid number of a genes would be 4, one of which should be the mutated...

OBJECTIVES In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the alpha2-globin gene polyadenylation (poly A) signal (AATAAA-->AATAAG) mutation (alpha(T)alpha). Here we document the clinical and hemato logical characteristics of children with Hb H disease being followed in Kuwait. SUBJECTS AND METHODS Twenty-four patien...

The therapeutic use of patient-specific induced pluripotent stem cells (iPSCs) is emerging as a potential treatment of β-thalassemia. Ideally, patient-specific iPSCs would be genetically corrected by various approaches to treat β-thalassemia including lentiviral gene transfer, lentivirus-delivered shRNA, and gene editing. These corrected iPSCs would be subsequently differentiated into hematopoi...