Achieving long-term pancellular expression of a transferred gene at therapeutic level in a given hematopoietic lineage remains an important goal of gene therapy. Advances have recently been made in the genetic correction of the hemoglobinopathies by means of lentiviral vectors and large locus control region (LCR) derivatives. However, panerythroid beta globin gene expression has not yet been ac...

background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

While the precipitation of unstable variant beta-globin chains has been implicated as a major pathogenic mechanism in dominantly inherited beta thalassemia, their instability and presence in intra-erythroblastic inclusions have not been conclusively shown. We report the investigation of two cases of dominantly inherited beta thalassemia due to heterozygosity for the beta-codon 121 G-T mutation....

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

Transcripts of most intron-bearing cellular genes must be processed by the splicing machinery in order to efficiently accumulate and gain access to the cytoplasm. However, we found that herpes simplex virus induces cytoplasmic accumulation of both spliced and unspliced polyadenylated a-globin RNAs in infected HeLa cells. Accumulation of the unspliced RNA required the immediate-early protein ICP...

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...

Human beta-globin disorders are relatively common genetic diseases cause by mutations in the beta-globin gene. Increasing the expression of the gamma-globin gene has great benefits in reducing complications associated with these diseases. The Oct-1 transcription factor is involved in the transcriptional regulation of the gamma-globin gene. The human gamma-globin genes (both Agamma and Ggamma-gl...

To further explore the cause for variation in hemoglobin F (Hb F) levels in sickle cell disease, the beta globin restriction-fragment length polymorphism haplotypes were determined in a total of 303 (126 SS, 141 AS, 17 S beta(0), 7 A beta, (0) and 12 AA) Indians from the state of Orissa. The beta(s) globin gene was found to be linked almost exclusively to a beta(S) haplotype ( -++-), which is a...

In murine erythroleukemia cells, the minor/major hemoglobin (Hb) ratio depends on the cell line and the inducing agent. To determine whether mouse minor hemoglobin is a "fetal" hemoglobin in vivo, globin chain composition and synthesis rates were determined in DBA/2 mice of various ages ranging from 14-day embryos to > 6-mo adults. Globin chains were separated by electrophoresis on polyacrylami...

Hemoglobin E (HbE; alpha2beta226glu-lys), globally the commonest hemoglobin variant, is synthesized at a slightly reduced rate and has a homozygous phenotype similar to heterozygous beta thalassemia. Yet, when it is inherited together with a beta thalassemia allele, the resulting condition, HbE/beta thalassemia, is sometimes characterized by a severe, transfusion-dependent thalassemia major. Th...