{-Globin is the embryonic form of the O( chain of hemoglobin. Transgenic mice generated with {-globin constructs containing the {-globin gene, 557 bp of 5 flanking sequence, and 2-kb of 3 flanking sequence linked to the @globin locus control region hypersensitive site 2 (HS2) expressed human {-globin only in embryonic yolk sac erythroid tissue, and not in definitive erythroid tissue in the feta...

Synthesis of alpha-globin and alpha-globin subunits of hemoglobin occurs at high levels during erythrocyte differentiation in a tightly controlled and coordinated fashion. Expression of alpha-globin is a fascinatingly complex process which has been meticulously defined in several recent studies, from chromatin modifications to Pol II recruitment. Following this, alpha-globin transcripts are pro...

Hemoglobin A2 (HbA2; alpha 2 delta 2) is a powerful inhibitor of HbS (alpha 2 beta 2(3)) polymerization. However, HbA2 levels are normally low in sickle cell patients. We show that a major reason for low delta-globin gene expression is the defective CACCC box at -90 in the delta-globin promoter. When the CACCC box defect in delta is corrected, expression of an HS2 delta /Luciferase reporter is ...

The human beta-globin locus control region (LCR) consists of five erythroid-lineage-specific DNase I-hypersensitive sites (HSs) and is required for activation of the beta-globin locus chromatin domain and globin gene expression. Each DNase I-HS of the LCR consists of a highly conserved core element and flanking sequences. To analyze the functional role of the core elements of the HSs, we delete...

Synthetic genes encoding the human alpha- and beta-globin polypeptides have been expressed from a single operon in Escherichia coli. The alpha- and beta-globin polypeptides associate into soluble tetramers, incorporate heme, and accumulate to greater than 5% of the total cellular protein. Purified recombinant hemoglobin has the correct stoichiometry of alpha- and beta-globin chains and contains...

the restriction enzyme ava ii detects the base change of the intervening sequence ii (ivs ii) which is used as one of the markers of β-globin gene polymorphism. this study was conducted to determine the frequency of the ava ii site on the β-globin gene among normal people and patients with sickle cell syndrome (scs) in iran. dna fragments containing the ivs ii region of the β-globin gene from 3...

Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed a two-year-old Russian boy with severe transfusion-dependent anemia caused by de novo mutation b-globin gene [b31(B13) Leu→Arg, HBB: c.95T>G]. Routine diagnostic methods were not effective, and his diagnosis established until sequencing globin performed. A comparative analysis...

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...

Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb MedII, 20.5 and 17.4 MedI) two small (thal-2; 4.2 3.7 kb) have been in our country. In addition, different PolyA mutations (PA1: AATAAA>AATAAG PA2: AATAAA>AATGA) on α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), unstable Hb v...

Objective(s): β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. Materials and Methods: A plasmid containing a 192 bp sequence with two repe...