background: the majority of α-thalassemi mutations are deletions of one or both α-globin genes. since the iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. the aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemi...

BACKGROUND Histone H3 lysine 4 (K4) methylation has been linked with transcriptional activity in mammalian cells. The WD40-repeat protein, WDR5, is an essential component of the MLL complex that induces histone H3 K4 methylation, but the role of WDR5 in human globin gene regulation has not yet been established. DESIGN AND METHODS To study the role of WDR5 in human globin gene regulation, we p...

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutatio...

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...

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 ...

We have previously described an English family with ‘y#{244} thalassemia in which a large deletion stops 25 kilobases (kb) upstream from the fl-globin gene locus. and yet the fi-globin gene is inactive in vivo. Affected family members had a fi-thalassemia minor phenotype with a normal hemoglobin A2 level. Gene mapping showed that these subjects were heterozygous for a chromosome bearing a large...

{-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...

Phylogenetic reconstructions of the beta-globin gene family in vertebrates have revealed that developmentally regulated systems of hemoglobin synthesis have been reinvented multiple times in independent lineages. For example, the functional differentiation of embryonic and adult beta-like globin genes occurred independently in birds and mammals. In both taxa, the embryonic beta-globin gene is e...

The mechanisms by which pharmacologic agents stimulate gamma-globin gene expression in beta-globin disorders has not been fully established at the molecular level. In studies described here, nucleated erythroblasts were isolated from patients with beta-globin disorders before and with butyrate therapy, and globin biosynthesis, mRNA, and protein-DNA interactions were examined. Expression of gamm...

The a b i l i to generate stable high-titer vectors that give rise to high levels of expression of transduced globin genes in erythroid dls is a prerequisite for dfective retrovird-diated globin gene therapy. The human #%globin gene with its immediate flanking sequences does not contain all the regulatory elements necessary for regulated high-level and position-independent expression in erythro...