Molecular Analysis of γ-Globin Promoters, HS-111 and 3′HS1, in β-thalassemia Intermedia Patients Associated with High Levels of Hb F

REFERENCES

• Camaschella C, Cappellini MD. Thalassemia intermedia. Haematologica. 1995;80(1):58–68.
   PubMed Web of Science ®Google Scholar
• Rosatelli MC, Oggiano L, Battista Leoni G, . Thalassemia intermedia resulting from a mild β-thalassemia mutation. Blood. 1989;73(2):601–605.
   PubMed Web of Science ®Google Scholar
• Katsube T, Fukumaki Y. A role for the distal CCAAT box of the γ-globin gene in Hb switching. J Biochem. 1995;117(1):68–76.
   PubMed Web of Science ®Google Scholar
• Blau CA, Stamatoyannopoulos G. Hemoglobin switching and its clinical implications. Curr Opin Hematol. 1994;1(2):136–142.
   PubMedGoogle Scholar
• de Vooght KM, van Wijk R, Ploos van Amstel HK, van Solinge WW. Characterization of the −16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human γ-globin genes. Blood Cells Mol Dis. 2007;39(1):70–74.
   PubMed Web of Science ®Google Scholar
• Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gγ globin production. Blood. 1985;66(4):783–787.
   PubMed Web of Science ®Google Scholar
• Papachatzopoulou A, Kaimakis P, Pourfarzad F, . Increased γ-globin gene expression in β-thalassemia intermedia patients correlates with a mutation in 3′HS1. Am J Hematol. 2007; 82(11):1005–1009.
   PubMed Web of Science ®Google Scholar
• Patrinos GP, de Krom M, de Boer E, . Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. Genes Dev. 2004;18(12):1495–1509.
   PubMed Web of Science ®Google Scholar
• Palstra RJ, Tolhuis B, Splinter E, Nijmeijer R, Grosveld F, de Laat W. The β-globin nuclear compartment in development and erythroid differentiation. Nat Genet. 2003;35(2):190–194.
   PubMed Web of Science ®Google Scholar
• Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W. Looping and interaction between hypersensitive sites in the active β-globin locus. Mol Cell. 2002;10(6):1453–1465.
   PubMed Web of Science ®Google Scholar
• Zon LI, Tsai SF, Burgess S, Matsudaira P, Bruns GA, Orkin SH. The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. Proc Natl Acad Sci USA. 1990;87(2):668–672.
   PubMed Web of Science ®Google Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
   PubMed Web of Science ®Google Scholar
• Karimipoor M, Zeinali S, Nafissi N, Tuddenham EG, Lak M, Safaee R. Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing. Thromb Res. 2007;120(1): 135–139.
   PubMed Web of Science ®Google Scholar
• Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66–69.
   PubMed Web of Science ®Google Scholar
• Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. 1977. Biotechnology. 1992;24:104–108.
   PubMedGoogle Scholar
• Gonzalez-Redondo JM, Stoming TA, Kutlar A, . A C→T substitution at nt −101 in a conserved DNA sequence of the promotor region of the β-globin gene is associated with “silent” β-thalassemia. Blood. 1989;73(6):1705–1711.
   PubMed Web of Science ®Google Scholar
• Samakoglu S, Philipsen S, Grosveld F, Luleci G, Bagci H. Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of β LCRHS-2 region associated with altered levels of Hb F. Eur J Hum Genet. 1999;7(3):345–356.
   PubMed Web of Science ®Google Scholar
• Papachatzopoulou A, Kourakli A, Makropoulou P, . Genotypic heterogeneity and correlation to intergenic haplotype within high Hb F β-thalassemia intermedia. Eur J Haematol. 2006;76(4): 322–330.
   PubMed Web of Science ®Google Scholar
• Papadakis MN, Patrinos GP, Tsaftaridis P, Loutradi-Anagnostou A. A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and β-thalassemia compound heterozygotes. J Mol Med. 2002;80(4):243–247.
   PubMed Web of Science ®Google Scholar
• Patrinos GP, Kollia P, Papapanagiotou E, Loutradi-Anagnostou A, Loukopoulos D, Papadakis MN. Aγ-haplotypes: a new group of genetic markers for thalassemic mutations inside the 5′ regulatory region of the human Aγ-globin gene. Am J Hematol. 2001;66(2):99–104.
   PubMed Web of Science ®Google Scholar
• Tasiopoulou M, Boussiou M, Sinopoulou K, Moraitis G, Loutradi-Anagnostou A, Karababa P. Gγ-196 C→T, Aγ-201 C→T: two novel mutations in the promoter region of the γ-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece. Blood Cells Mol Dis. 2008;40(3):320–322.
   PubMed Web of Science ®Google Scholar
• Loukopoulos D. New therapies for the haemoglobinopathies. J Intern Med Suppl. 1997;740:43–48.
   PubMedGoogle Scholar
• Stamatoyannopoulos G, Josephson B, Zhang JW, Li Q. Developmental regulation of human γ-globin genes in transgenic mice. Mol Cell Biol. 1993;13(12):7636–7644.
   PubMed Web of Science ®Google Scholar
• Verma IC, Kleanthous M, Saxena R, . Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin. 2007;31(4):439–452.
   PubMed Web of Science ®Google Scholar
• Akbari MT, Izadi P, Izadyar M, Kyriacou K, Kleanthous M. Molecular basis of thalassemia intermedia in Iran. Hemoglobin. 2008;32(5):462–470.
   PubMed Web of Science ®Google Scholar
• Karimi M, Yarmohammadi H, Farjadian S, . β-thalassemia intermedia from southern Iran: IVS-II-1 (G→A) is the prevalent thalassemia intermedia allele. Hemoglobin. 2002;26(2):147–154.
   PubMed Web of Science ®Google Scholar
• Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent β-thalassemia patients. Haematologica. 2004;89(10):1172–1178.
   PubMed Web of Science ®Google Scholar
• Lapoumeroulie C, Castiglia L, Ruberto C, . Genetic variations in human fetal globin gene microsatellites and their functional relevance. Hum Genet. 1999;104(4):307–314.
   PubMed Web of Science ®Google Scholar
• De Angioletti M, Lacerra G, Pagano L, . β-Thalassaemia −87 C→G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients. Br J Haematol. 2004;126(5): 743–749.
   PubMed Web of Science ®Google Scholar
• Dedoussis GV, Sinopoulou K, Gyparaki M, Loutradis A. Fetal hemoglobin expression in the compound heterozygous state for −117 (G→A) Aγ HPFH and IVS-II-745 (C→G) β+ thalassemia: a case study. Am J Hematol. 1999;61(2):139–143.
   PubMed Web of Science ®Google Scholar
• Gilman JG, Johnson ME, Mishima N. Four base-pair DNA deletion in human Aγ-globin gene promoter associated with low Aγ expression in adults. Br J Haematol. 1988;68(4):455–458.
   PubMed Web of Science ®Google Scholar