introduction: β-globin gene cluster haplotypes are useful in diagnosis of particular molecular defects in β-thalassemia, prenatal diagnosis of β-thalassemia, and elucidating population affinities. methods: β-globin gene cluster haplotypes were studied in 150 β-thalassemia minor and 52 healthy in-dividuals from the fars province of iran. dna was extracted from leukocytes of whole blood by phe-no...

It is unclear whether the core promoter is involved in developmental regulation. To address this question, we mutated the TATA box of the human -globin gene, produced transgenic mice, and examined the effect of the mutation during the course of mouse development. In our test system, the -globin gene is expressed at similar levels in the embryonic and adult erythroid cells. The TATA box mutation...

BACKGROUND AND OBJECTIVE Current application of molecular biology techniques to the study of the DNA of globin genes has confirmed the existence of silent alpha and beta thalassemias; which had already been reported on the basis of red blood cell parameters and family studies. The present work was aimed at analyzing all the aspects of the phenotype of the most common varieties of silent thalass...

We have previously described an English family with ‘y#{244} thalassemia in which a large deletion stops 25 kilobases (kb) upstream from the fl-globin gene locus. and yet the fi-globin gene is inactive in vivo. Affected family members had a fi-thalassemia minor phenotype with a normal hemoglobin A2 level. Gene mapping showed that these subjects were heterozygous for a chromosome bearing a large...

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...

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...

Beta-thalassemia (β-thal) is one of the most common autosomal recessive single gene disorders worldwide [1]. At least 200 different mutations in the β-globin gene that result in the β-thal minor and major phenotypes have been described [2,3]. The incidence of β-thal is high in Mediterranean regions, Iran, India, The Arabian Peninsula, Southeast Asia, and Turkey [4]. β-thal is characterized by p...

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 ...

A ribozyme-mediated approach has made it possible to replace the region in beta globin mRNA containing the sickle-cell-anaemia mutation with a gamma-globin-encoding sequence. This is an interesting new way of correcting monogenic disease, but there are major problems to overcome before it could be applied in the clinic.