Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 2
166
Views
5
CrossRef citations to date
0
Altmetric
Original Article

Genetic Determinants of β-Thalassemia Intermedia in Pakistan

, , &
Pages 95-101 | Received 26 Mar 2014, Accepted 18 Aug 2014, Published online: 24 Feb 2015

References

  • Karlsson S, Nienhuis AW. Developmental regulation of human globin genes. Annu Rev Biochem. 1985;54:1071–1108
  • Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61–76
  • Galanello R, Origa R. β-Thalassemia. Orphanet J Rare Dis. 2010;5:11
  • Camaschella C, Cappellini MD. Thalassemia intermedia. Haematologica. 1995;80(1):58–68
  • Adams JG 3rd, Coleman MB. Structural hemoglobin variants that produce the phenotype of thalassemia. Semin Hematol. 1990;27(3):229–238
  • Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia: Molecular biology and clinical medicine. Hemoglobin. 1997;21(4):299–319
  • Kazazian HH Jr. The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990. Semin Hematol. 1990;27(3):209–228
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu)
  • Faa V, Meloni A, Moi L, et al. Thalassaemia-like carriers not linked to the β-globin gene cluster. Br J Haematol. 2006;132(5):640–650
  • Kimura EM, Grignoli CR, Pinheiro VR, et al. Thalassemia intermedia as a result of heterozygosis for β0-thalassemia and αααanti-3.7 genotype in a Brazilian patient. Braz J Med Biol Res. 2003;36(6):699–701
  • Liao C, Mo QH, Li J, et al. Carrier screening for α- and β-thalassemia in pregnancy: The results of an 11–year prospective program in Guangzhou Maternal and Neonatal Hospital. Prenat Diagn. 2005;25(2):163–171
  • Logothetis J, Constantoulakis M, Economidou J, et al. Thalassemia major (homozygous β-thalassemia). A survey of 138 cases with emphasis on neurologic and muscular aspects. Neurology. 1972;22(3):294–304
  • Olivieri NF, Muraca GM, O’Donnell A, et al. Studies in Haemoglobin E β-thalassaemia. Br J Haematol. 2008;141(3):388–397
  • Oron V, Filon D, Oppenheim A, et al. Severe thalassaemia intermedia caused by interaction of homozygosity for α-globin gene triplication with heterozygosity for β0-thalassaemia. Br J Haematol. 1994;86(2):377–379
  • Papachatzopoulou A, Kourakli A, Makropoulou P, et al. Genotypic heterogeneity and correlation to intergenic haplotype within high Hb F β-thalassemia intermedia. Eur J Haematol. 2006;76(4):322–330
  • Spritz RA, Jagadeeswaran P, Choudary PV, et al. Base substitution in an intervening sequence of a β+-thalassemic human globin gene. Proc Natl Acad Sci USA. 1981;78(4);2455–2459
  • Sripichai O, Makarasara W, Munkongdee T, et al. A scoring system for the classification of β-thalassemia/Hb E disease severity. Am J Hematol. 2008;83(6):482–484
  • Danjou F, Anni F, Perseu L, et al. Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica. 2012;97(7):989–993
  • Thein SL. Genetic modifiers of β-thalassemia. Haematologica. 2005;90(5):649–660
  • Khattak MF, Saleem M. Prevalence of heterozygous β-thalassemia in northern areas of Pakistan. J Pak Med Assoc. 1992;42(2):32–34
  • Ahmed S, Petrou M, Saleem M. Molecular genetics of β-thalassaemia in Pakistan: A basis for prenatal diagnosis. Br J Haematol. 1996;94(3):476–482
  • Hashmi JA, Farzana F. Letter: Thalassaemia trait, abnormal haemoglobins, and raised fetal haemoglobin in Karachi. Lancet. 1976;1(7952):206
  • Khan SN, Riazuddin S. Molecular characterization of β-thalassemia in Pakistan. Hemoglobin. 1998;22(4):333–345
  • Rehman Z, Saleem M, Alvi AA, et al. α-Thalassaemia: Prevalence and pattern in northern Pakistan. J Pak Med Assoc. 1991;41(10):246–247
  • Khan SN, Hasan F, Sollaino C, et al. Molecular characterization of a-thalassemia in Pakistan. Hemoglobin. 2003;27(3):161–166
  • Gasperini D, Perseu L, Melis MA, et al. Heterozygous β-thalassemia with thalassemia intermedia phenotype. Am J Hematol. 1998;57(1):43–47
  • Han AP, Fleming MD, Chen JJ. Heme-regulated eIF2α kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and β-thalassemia. J Clin Invest. 2005;115(6):1562–1570
  • Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin. 1987;11(1):65–88
  • 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
  • Newton CR, Graham A, Heptinstall LE, et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17(7):2503–2516
  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74(12):5463–5467
  • Higgs DR, Wood WG, Jarman AP, et al. A major positive regulatory region located far upstream of the human α-globin gene locus. Genes Dev. 1990;4(9):1588–1601
  • Wang W, Ma ES, Chan AY, et al. Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications. Clin Chem. 2003;49(10);1679–1682
  • Yi P, Yu F, Huang S, et al. Identification of a novel frameshift mutation at codon 53 (–T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family. Blood Cells Mol Dis. 2008;41(1):56–59
  • Rafique B. Haemogolobinopathies (thalassemia). Review and analysis of 1510 cases. J Pak Paediatr. 1990;14:85–95
  • Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc Natl Acad Sci USA. 2008;105(5):1620–1625
  • Dodé C, Krishnamoorthy R, Lamb J, et al. Rapid analysis of −α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol. 1993;83(1):105–111
  • Higgs DR, Goodbourn SE, Lamb J, et al. α-Thalassaemia caused by a polyadenylation signal mutation. Nature. 1983;306(5941):398–400
  • Guida V, Cappabianca MP, Colosimo A, et al. Influence of Gγ –158 C → and β-(AT)x(T)y globin gene polymorphisms on HbF levels in Italian β-thalassemia carriers and wild-type subjects. Haematologica. 2006;91(9):1275–1276
  • Papachatzopoulou A, Kaimakis P, Pourfarzad F, et al. 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
  • Pirastu M, Saglio G, Chang JC, et al. Initiation codon mutation as a cause of α thalassemia. J Biol Chem. 1984;259(20):12315–12317
  • Musallam KM, Taher AT, Rachmilewitz EA. β-Thalassemia intermedia: A clinical perspective. Cold Spring Harb Perspect Med. 2012;2(7):a013482. doi: 10.1101/cshperspect.a012482

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.