Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 3
93
Views
12
CrossRef citations to date
0
Altmetric
Short Communication

An α‐Thalassemia Phenotype in a Dutch Hindustani, Caused by a New Point Mutation that Creates an Alternative Splice Donor Site in the First Exon of the α2‐Globin Gene

, Ph.D., , , , &
Pages 255-259 | Received 02 Oct 2003, Accepted 22 Dec 2003, Published online: 24 Aug 2009

References

  • Bernini L F, Harteveld C L. α‐Thalassaemia. Bailliere's Clin Haematol 1998; 11(1)53–90
  • Harteveld C L, Heister J G, Giordano P C, Batelaan D, van Delft P, Haak H L, Wijermans P W, Losekoot M, Bernini L F. An IVS1‐116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families. Br J Haematol 1996; 95(3)461–466
  • Çürük M A, Baysal E, Gupta R B, Sharma S, Huisman T HJ. An IVS‐I‐117 (G→A) acceptor splice site mutation in the α1‐globin gene is a nondeletional α‐thalassaemia‐2 determinant in an Indian population. Br J Haematol 1993; 85(1)148–152
  • Orkin S H, Goff S C, Hechtman R L. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A 1981; 78(8)5041–5045
  • Harteveld C L, Beijer C, van Delft P, Zanardini R, Bernini L F, Giordano P C. α‐Thalassaemia as a result of a novel splice donor site mutation of the α1‐globin gene. Br J Haematol 2000; 110(3)694–698
  • Giordano P C, van Delft P, Batelaan D, Harteveld C L, Bernini L F. Haemoglobinopathies analysis in The Netherlands: a report of an in vitro globin chains biosynthesis survey using a rapid modified method. Clin Lab Haematol 1999; 21(4)247–255
  • Kattamis A C, Camaschella C, Sivera P, Surrey S, Fortina P. Human α‐thalassemia syndromes: detection of molecular defects. Am J Hematol 1996; 53(2)81–91
  • Reese M G, Eeckman F H, Kulp D, Haussler D. Improved splice site detection in Genie. J Comp Biol 1997; 4(3)311–323
  • Thermann R, Neu‐Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze M W, Kulozik A E. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J 1998; 17(12)3484–3494
  • Surdej P, Riedl A, Jacobs‐Lorena M. Regulation of mRNA stability in development. Ann Rev Genet 1994; 28: 263–282
  • Frischmeyer P A, Dietz H C. Nonsense‐mediated mRNA decay in health and disease. Hum Molec Genet 1999; 8(10)1893–1900
  • Lykke‐Andersen J, Shu M D, Steitz J. Human Upf proteins target an mRNA for nonsense‐mediated decay when bound downstream of a termination codon. Cell 2000; 103(7)1121–1131
  • Thein S L, Hesketh C, Taylor P, Temperley I J, Hutchinson R M, Old J M, Wood W G, Clegg J B, Weatherall D J. Molecular basis for dominantly inherited inclusion body β‐thalassemia. Proc Natl Acad Sci U S A 1990; 87(10)3924–3928

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.