background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

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...

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...

by application of modern recombinant dna technology, especially the polymerase chain reaction (pcr)/dot-blot hybridization techniques, we have investigated the molecular basis of β-thalassemia from four different regions of iran: central, south-east, south and north. in this study, the dna samples were isolated from patients and for the identification of the mutations, the 6 oligonucleotide pro...

The genes that encode the α- and β-chain subunits of vertebrate hemoglobin have served as a model system for elucidating general principles of gene family evolution, but little is known about patterns of evolution in amniotes other than mammals and birds. Here, we report a comparative genomic analysis of the α- and β-globin gene clusters in sauropsids (archosaurs and nonavian reptiles). The obj...

beta thalassemia is the  most common autosomal recessive disorder. the present study reports a rare β globin gene mutation, hbb: c.180g>a: codon 59 (aag/aaa), in a patient from gilan province, northern iran. nucleotide sequencing of amplified dna belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a g>a conversion at the third position of codon 59 o...

Human hemoglobins, the oxygen carriers in the blood, are composed by two α-like and two β-like globin monomers. The β-globin gene cluster located at 11p15.5 comprises one pseudogene and five genes whose expression undergoes two critical switches: the embryonic-to-fetal and fetal-to-adult transition. HBD encodes the δ-globin chain of the minor adult hemoglobin (HbA2), which is assumed to be phys...

Genomic maps of chromatin modifications have provided evidence for the partitioning of genomes into domains of distinct chromatin states, which assist coordinated gene regulation. The maintenance of chromatin domain integrity can require the setting of boundaries. The HS4 insulator element marks the 3' boundary of a heterochromatin region located upstream of the chicken β-globin gene cluster. H...

OBJECTIVE Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation...

Beta-thalassemia (β-thal) is a congenital hemoglobinopathy explained by a decreased level (β+) or absence (βο) of β-globin gene expression. Microcytic hypochromic anemia and various clinical symptoms comprising severe anemia to clinically nonsymptomatic features. Treatment with an ordered blood transfusion and iron chelator agents can decrease transfusion iron overload that causes normal matura...