Background & objectives: The researcher clarified that β/Globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. Materials and methods: A total of 150 subjects was investigated in two different groups for five polymorphism restriction site...

Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for beta0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent beta-thalassemia) unlinked to the beta cluster interacting with the heterozygous beta thalassemia, was previously postulated in these families. Analy...

The human -globin locus has been extensively studied as a model of tissue and developmental stage-specific gene expression. Structural mapping of naturally occurring mutations, including transfection and transgenic studies, and the recent finding of intergenic transcripts have suggested that there are cis-acting sequence elements in the A – intergenic region involved in regulating and -globin g...

background & objectives: the researcher clarified that β/globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. materials and methods: a total of 150 subjects was investigated in two different groups for five polymorphism restriction sites of t...

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)....

We report a new type of deletion of the fi globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. This deletion begins -5 kilobases (kb) 5’ to the #{246} globin gene and ends -30 kb 3’ to the fi globin gene. in close proximity to the 3’ end of an Indian HPFH. In all four previously described HPFH. a repetitive...

F if any, proteins have been studied in as many organisms as have the hemoglobins. They are found in bacteria, fungi, plants, and animals, serving physiological roles ranging from oxygen transport in the blood of vertebrates to catalyzing the combination of oxygen and nitric oxide to form nitrate in bacteria, yeast, and worms (1, 2). Hence hemoglobins and the globin genes encoding them have bee...

Matrix attachment regions (MARs) are important in chromatin organization and gene regulation. Although it is known that there are a number of MAR elements in the beta-globin gene cluster, it is unclear that how these MAR elements are involved in regulating beta-globin genes expression. Here, we report the identification of a new MAR element at the LCR (locus control region) of human beta-globin...

Special AT-rich binding protein 1 (SATB1) nuclear protein, expressed predominantly in T cells, regulates genes through targeting chromatin remodeling during T-cell maturation. Here we show SATB1 family protein induction during early human adult erythroid progenitor cell differentiation concomitant with epsilon-globin expression. Erythroid differentiation of human erythroleukemia K562 cells by h...