Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...

Human β-globin gene expression is regulated tightly during development and hematopoiesis. The human β-globin locus comprises five developmentally regulated genes (5′-ε-Gγ-Aγ-δ-β-3′) whose high level and stage-specific expression depends on interactions with the locus control region (LCR), consisting of five major DNaseI hypersensitive sites (Figure 1). The LCR activates β-globin gene transcript...

Thalassemia is a group of hereditary hemoglobin disorders characterized by insufficient production at least one globin chain, resulting in unbalanced chains. Homozygous mutations the β-globin gene, absence β-chain, are main cause β-thalassemia major. Because β-chain major not formed, there an accumulation free α-chains red blood cells, which can trigger apoptosis and hemolysis ineffective eryth...

This is a report of novel variant the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC TGC, named Hb Mazandaran, which was observed in an Iranian family. gives rise to previously undescribed haemoglobin that undetectable by capillary electrophoresis (CE). detected two cases combination with β-globin mutation, and it does not seem be associated severe haematological abnormalities carriers.

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...

BACKGROUND β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manif...

TAL1 is a key hematopoietic transcription factor that binds to regulatory regions of a large cohort of erythroid genes as part of a complex with GATA-1, LMO2 and Ldb1. The complex mediates long-range interaction between the β-globin locus control region (LCR) and active globin genes, and although TAL1 is one of the two DNA-binding complex members, its role is unclear. To explore the role of TAL...

The aim of the present study was to investigate the effect of the characteristic elements of matrix attachment region (MAR) on transgene expression. Human β‑globin MAR was obtained by PCR amplification. A splicing MAR fragment containing all the characteristic elements of β‑globin MAR was artificially synthesized and then cloned into the eukaryotic expression vector. Following digestion and seq...

Enhancers are closely positioned with actively transcribed target genes by chromatin looping. Non-coding RNAs are often transcribed on active enhancers, referred to as eRNAs (enhancer RNAs). To explore the kinetics of enhancer-promoter looping and eRNA transcription during transcriptional activation, we induced the β-globin locus by chemical treatment and analysed cross-linking frequency betwee...