Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 1
33
Views
5
CrossRef citations to date
0
Altmetric
Short Communications

Homozygosity for a Rare β0-Thalassemia Mutation [Frameshift Codons 25/26 (+T)] Causes β-Thalassemia Intermedia in an Iranian Family

, , , &
Pages 75-80 | Received 03 Sep 2007, Accepted 15 Sep 2008, Published online: 07 Jul 2009

REFERENCES

  • Ratip S, Petrou M, Old JM, Wonke B, Porter JB, Modell B. Relationship between the severity of β-thalassemia syndromes and the number of alleviating mutations. Eur J Haematol. 1997; 58(1)14–21
  • Amato A, Cappabianca MP, Ponzini D, et al. Detection of a rare β-globin nonsense mutation [codon 59 (AATAG)] in an Italian family. Hemoglobin. 2006; 30(3)405–407
  • Labie D, Dunda-Belkhodja O, Rouabhi F, Pagnier J, Ragusa A, Nagel RL. The −158 site 5′ to the Gγ gene and Gγ expression. Blood. 1985; 66(6)1463–1465
  • Sampietro M, Cazzola M, Cappellini MD, Fiorelli G. The triplicated α-gene locus and heterozygous β-thalassaemia: A case of thalassaemia intermedia. Br J Haematol. 1983; 55(4)709–710
  • Altay Ç, Öner C, Öner R, Gümrük F, Mergen H, Gürgey A. Effect of α-gene numbers on the expression of β-thalassemia intermedia, β-thalassemia and (δβ)0-thalassemia traits. Hum Hered. 1998; 48(3)121–125
  • Fattoum S, Guemira F, Öner C, et al. β-Thalassemia, Hb S-β-thalassemia and sickle cell anemia among Tunisians. Hemoglobin. 1991; 15(1&2)11–21
  • Bibi A, Messaoud T, Fattoum S. Haplotypes linked to three rare β-thalassemia mutations, originally reported in Tunisia. Hemoglobin. 2006; 30(2)175–181
  • Hosseinpour Feizi MA, Hosseinpour Feizi AA, Pouladi N, Haghi M, Azarfam P. Molecular spectrum of β-thalassemia mutations in Northwestern Iran. Hemoglobin. 2008; 32(3)255–261
  • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30(12)e57
  • Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005; 42(12)922–931
  • Wood WG, Weatherall DJ. Developmental genetics of the human haemoglobins. Biochem J. 1983; 215(1)1–10
  • Öner C, Dimovski AJ, Altay Ç, Gürgey A, Gu Y-C, Huisman THJ, Lanclos KD. Sequence variations in the 5′ hypersensitive site-2 of the locus control region of βS chromosomes are associated with different levels of fetal globin in Hemoglobin S homozygotes. Blood. 1992; 79(3)813–819
  • Miyoshi K, Kaneto Y, Kawai H, et al. X-Linked dominant control of F-cells in normal adult life: Characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood. 1988; 72(6)1854–1860
  • Marinucci M, Mavilio F, Giuliani A, et al. β Thalassemia associated with increased Hb F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to β thalassemia in a southern Italian population. Hemoglobin. 1981; 5(1)1–17
  • Garner C, Mitchell J, Hatzis T, Reittie J, Farrall M, Thein SL. Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Am J Hum Genet. 1998; 62(6)1468–1474
  • Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood. 1992; 80(3)816–824
  • Chang YP, Maier-Redelsperger M, Smith KD, et al. The relative importance of the X-linked FCP locus and β-globin haplotypes in determining Hemoglobin F levels: A study of SS patients homozygous for βS haplotypes. Br J Haematol. 1997; 96(4)806–814
  • Garner C, Tatu T, Best S, Creary L, Thein SL. Evidence for genetic interaction between the β-globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Genet. 2002; 70(3)793–799

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.