objective(s): iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. however, to date there is no reliable information on the application of the markers in the iranian pop...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

in recent years of experience fetal hemoglobin (hbf) induction considers as novel therapeutic approach for β-thalassemia and sickle cell in therapeutic approaches. several pharmacologic agents such as hydroxyurea, azacytidine, butyrate deriviates and immunomodulator drugs like pomalidomide and lnalidomide could able to up-regulate hbf level with different molecular and epigenetic paterns (1-4)....

Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...

Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α(2)γ(2)) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α(2)β(2)), increases to mor...

objective: β-thalassemia is caused by absence or reduction of β-globin chain synthesis. one of the effective therapeutic methods for this disease can be gene therapy by viral vectors. the capacity of lentiviral vectors is approximately 8 kb, we designed a 6 kb construct containing mini lcr and β-globin gene instead of lcr region. the aim of this study is to make a recombinant lentiviruses conta...

In mammals, the complex tissue- and developmental-specific expression of genes within the β-globin cluster is known to be subject to control by the gene promoters, by a locus control region (LCR) located upstream of the cluster, and by sequence elements located across the intergenic regions. Despite extensive investigation, however, the complement of sequences that is required for normal regula...

β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence ...

background: in the previous study, we have shown that the presence of a allele at position -588 in aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. therefore, we decided to investigate whether this allele (a allele at -588) could result in an increase in aγ-globin gene expression to ameliorate the severity of the ...

introduction: β-globin gene cluster haplotypes are useful in diagnosis of particular molecular defects in β-thalassemia, prenatal diagnosis of β-thalassemia, and elucidating population affinities. methods: β-globin gene cluster haplotypes were studied in 150 β-thalassemia minor and 52 healthy in-dividuals from the fars province of iran. dna was extracted from leukocytes of whole blood by phe-no...