Natural deletions of the human β-globin gene cluster lead to specific syndromes characterized by increased production of fetal hemoglobin in adult life and provide a useful model to delineate novel cis-acting elements involved in the developmental control of hemoglobin switching. A hypothesis accounting for these phenotypic features, assumes that silencers located within the Aγ to δ-gene region...

OBJECTIVE To describe hematological and molecular features of a 13-bp deletion in the 3' untranslated region(3' UTR) of the β-globin gene in carrier individuals and a compound heterozygous patient. SUBJECTS AND METHODS Five members of an Iranian family of Persian ethnic origin were studied. Red blood cell indices and hemoglobin analysis were carried out according to standard methods. Genomic ...

In human adult erythroid cells, lower than normal levels of Krüppel-like transcription factor 1 (KLF1) are generally associated with decreased adult β- and increased fetal γ-globin gene expression. KLF1 also regulates BCL11A, a known repressor of adult γ-globin expression. In seeming contrast to the findings in adult cells, lower amounts of KLF1 correlate with both reduced embryonic and reduced...

Gene transfer for β-thalassemia requires gene transfer into hematopoietic stem cells using integrating vectors that direct regulated expression of β globin at therapeutic levels. Among integrating vectors, oncoretroviral vectors carrying the human βglobin gene and portions of the locus control region (LCR) have suffered from problems of vector instability, low titers and variable expression. In...

Sickle cell disease (SCD) and β-thalassemia patients are phenotypically normal if they carry compensatory hereditary persistence of fetal hemoglobin (HPFH) mutations that result in increased levels of fetal hemoglobin (HbF, γ-globin chains) in adulthood. Thus, research has focused on manipulating the reactivation of γ-globin gene expression during adult definitive erythropoiesis as the most pro...

BACKGROUND We aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (SCT) and α(thal)/β(thal) mutations in south and south central of Iran. METHOD We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. All subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain...

background: human β-like globin genes regulaon during development from embyonic to adult stage results in generaon of different types of hemoglobin with different funcons. as β-thalassemia and sickle cell disease are disorders of β-globin chain, epigenec drugs such as thalidomide and sodium butyrate which can induce γ-globin gene are considered as a novel therapeuc approach. drugs effecve...

This is a report of couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male female subjects β α-thalassemia carriers, respectively. Multiplex-Gap-PCR Sanger sequencing techniques used identification mutations β-globin genes. The DNA test showed presence c.315 + 1 G > A mutati...

Ldb1 and erythroid partners SCL, GATA-1, and LMO2 form a complex that is required to establish spatial proximity between the β-globin locus control region and gene and for transcription activation during erythroid differentiation. Here we show that Ldb1 controls gene expression at multiple levels. Ldb1 stabilizes its erythroid complex partners on β-globin chromatin, even though it is not one of...

Peptide nucleic acids (PNAs) can bind to homopurine/ homopyrimidine sequences of double-stranded DNA targets in a sequence-specific manner and form [PNA]2/DNA triplexes with single-stranded DNA D-loop structures at the PNA binding sites. These D-loop structures have been found to have a capacity to initiate transcription in vitro. If this strategy can be used to induce transcription of endogeno...