Background: In the previous study, we have shown that the presence of A allele at position -588 in γ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in γ-globin gene expression to ameliorate the severity of the di...

Background. Globin chain synthesis (GCS) analysis is used in the diagnosis of thalassemia. However, the wide reference range limits its use as a decisive diagnostic tool. It has been shown that α and β  globin mRNA increase through stimulation of cells by interleukin-3 (IL-3). Therefore, this study investigates the relationship between plasma IL-3 and the β/α  globin ratio. Methods. Blood sampl...

Background: In the previous study, we have shown that the presence of A allele at position -588 in γ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in γ-globin gene expression to ameliorate the severity of the di...

The J2E erythroid cell line, generated by transforming fetal liver cells, terminally differentiates in response to erythropoietin (epo). The cells expressed both adult and embryonic globin genes, although considerably more adult globin was produced, and transcripts for both species rose following exposure to epo. A 6-fold increase in transcription of the adult alpha and beta maj globin genes wa...

In humans, the b-globin cluster contains fetal gand g-globin and adult dandb-globin genes. Around the timeof birth, fetal hemoglobin (HbF) is almost completely replaced by adult hemoglobin (HbA) containing 2 b-globin chains. Based upon this developmental transition in hemoglobin production, mutations in the b-globin gene locus can cause a variety of hemoglobinopathies including sickle cell dise...

W ith the development in the early 1980s of technology to transfer genes to murine hematopoietic stem cells by using recombinant murine oncoretroviral vectors (1), the possibility of genetic therapy for a number of human disorders of the lympho-hematopoietic system seemed an attainable goal. Hemoglobin disorders were among the first diseases to be considered for gene therapy. Both sickle cell d...

The locus activation region (LAR) of the human beta-globin-like gene cluster is characterized by a group of four DNase I hypersensitive sites, which arise specifically in erythroid tissues and are required for a normal pattern of beta-globin-like gene expression. The hypersensitive sites are found at positions 6.1, 10.9, 14.7, and 18 kilobase pairs (kbp) 5' of the epsilon-globin gene. Recently ...

We have compared the rates of alpha- and beta-globin gene transcription with the rates of mature globin mRNA appearance in the cytoplasm during the course of chemically induced differentiation of mouse erythroleukemia cells by in vivo pulse-labeling experiments. The absolute rates for both processes were determined by simultaneously measuring incorporation into globin-specific transcripts and i...

Globin gene switching is a complex, highly regulated process allowing expression of distinct globin genes at specific developmental stages. Here, for the first time, we have characterized all of the zebrafish globins based on the completed genomic sequence. Two distinct chromosomal loci, termed major (chromosome 3) and minor (chromosome 12), harbor the globin genes containing α/β pairs in a 5'-...