Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of t...

The ability to generate stable high-titer vectors that give rise to high levels of expression of transduced globin genes in erythroid cells is a prerequisite for effective retroviral-mediated globin gene therapy. The human beta-globin gene with its immediate flanking sequences does not contain all the regulatory elements necessary for regulated high-level and position-independent expression in ...

The human α-globin gene cluster is located on chromosome 16 pterp13.3, and is arranged in the order, 5’ζ2-ψζ1-ψα2-ψα1-α2-α1-θ1-3’. Recent reexamination of the ψα2 gene revealed that it is expressed at a very low level, and was renamed as mu-globin gene. The cluster was thought to result from duplication events that occurred more than 300 million years ago. Unequal homologous recombinations are ...

Genome editing (GE) is one of the most efficient and useful molecular approaches to correct effects gene mutations in hereditary monogenetic diseases, including β-thalassemia. CRISPR-Cas9 has been proposed for effective correction β-thalassemia mutation, obtaining high-level “ de novo ” production adult hemoglobin (HbA). In addition primary causing β-thalassemia, several reports demonstrate tha...

The mouse beta-globin gene locus control region (LCR), located upstream of the beta-globin gene cluster, is essential for the activated transcription of genes in the cluster. The LCR contains multiple binding sites for transactivators, including Maf-recognition elements (MAREs). However, little is known about the specific proteins that bind to these sites or the time at which they bind during e...

The clinical and hematological course of β thalassemia intermedia is influenced by a number of genetic factors which play a role in increasing fetal haemoglobin levels. Several polymorphisms located in the promoters of β and γ globin gene are involved in influencing the disease severity. Our objective was to study the effect of cis-DNA haplotypes, motifs, or polymorphisms (Pre G γ globin gene h...

Lemur P-related globin genes have been isolated and sequenced. Orthology of pro-simian and human E-, y-, and P-related globin genes was established by dot-matrix analysis. All of these lemur globin genes potentially encode functional P-related globin polypeptides, though precisely when the y-globin gene is expressed remains unknown. The organization of the 18-kb brown lemur P-globin gene cluste...

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...