We have characterized the expression of the human zeta (zeta) gene, which encodes an embryonic alpha-like globin, in transgenic mice. We find that a 777 base pair fragment spanning erythroid specific hypersensitive site II (HSII) from the distal 5. region of the human beta globin gene cluster potentiates expression of the zeta globin gene. In the absence of the HSII fragment, no zeta expression...

characterire the type of HPFH. TIIC restriction map obtaimd with d i iknnt Cnryma (Rumtll. tfindlll. EmRI. H p l . R d l l . R d ! ) in the $&-globin gene region and at the level of the 3 0 p m k overlap that deccribed in b!xk HPFH tjpc I (data IW# s b n ) . ' In Hdirary pcnistm Of faa1 -lobin ("PFH) ''dm u auociated with hetcmeneour deletions within the fl globin gene cluster. I n the last yea...

The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythr...

BACKGROUND Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level. METHODS Genomic DNA extraction, ampl...

β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset β-thalassemia major that evolved from β-thalassemia minor in which only one of her parents had the diseased HBB gene. To study the cause of β-thalassemia majo...

Reactivation of fetal hemoglobin genes has been proposed as a potential therapeutic procedure in patients with β-thalassemia, sickle cell disease or other βhemoglobinopathies. In vitro model systems based on small plasmid globin gene constructs have previously been used in human and mouse erythroleukemic cell lines to study the molecular mechanisms regulating the expression of the fetal human g...

background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta glo­bin genes. the aim of the present study was to identify the distribution and frequency of the most com­mon β-thalassemia mu­tations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...

Fetal stem cells isolated from umbilical cord blood (UCB) possess a great capacity for proliferation and differentiation and serve as a valuable model system to study gene regulation. Expanded knowledge of the molecular control of hemoglobin synthesis will provide a basis for rational design of therapies for β-hemoglobinopathies. Transcriptome data are available for erythroid progenitors derive...