Advanced search
Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 3
Submit an article Journal homepage
181
Views
3
CrossRef citations to date
0
Altmetric
Original Article

Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon

Talal QadahDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia;Department of Medical Laboratory Science, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
,
Jill FinlaysonDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia
,
Christopher NewboundDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Nicole PellDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Michelle PascoeDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Laura GreenwoodDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Paula HolmesDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
Dianne GreyDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
,
John BeilbySchool of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia;Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia
&
Reza GhassemifarDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western AustraliaCorrespondence[email protected]
 show all
Pages 244-252 | Received 12 Dec 2011, Accepted 27 Jan 2012, Published online: 23 Apr 2012

REFERENCES

  • Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. 2005;353(11):1135–1146.
  • Harteveld CL, Higgs DR. α-Thalassemia. Orphanet J Rare Dis. 2010;5(1):13–23.
  • Strachan T, Read AP. Human Molecular Genetics 3, 3rd ed. New York: Garland Science, 2004.
  • Weatherall DJ. Beginnings: the molecular pathology of hemoglobin. In: Provan D, Gribben J, Eds. Molecular Hematology, 3rd ed. Chichester: Wiley-Blackwell. 2010:1–18.
  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541 (http://globin.cse.psu.edu).
  • 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.
  • Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1):250–251.
  • Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990;76(2):275–281.
  • Harteveld CL, Versteegh FGA, Kok PJMJ, van Rooijen-Nijdam IH, van Delft P, Giordano PC. Hb Bleuland [α108(G15)Thr→Asn, ACC→AAC (α2)]: a new abnormal hemoglobin associated with a mild α-thalassemia phenotype. Hemoglobin. 2006;30(3):349–354.
  • Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res. 1996;24(17):3439–3452.
  • Gasteiger E, Gattiker A, Hoogland C, Ivanyi I, Appel RD, Bairoch A. ExPASy: the proteomics server for in-depth protein knowledge and analysis. Nucleic Acids Res. 2003;31(13):3784–3788.
  • Qadah T, Finlayson J, Ghassemifar R. In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A)]. Hemoglobin. 2012;36(1):38–46.
  • Ermakova EO, Nurtdinov RN, Gelfand MS. Overlapping alternative donor splice sites in the human genome. J Bioinform Comput Biol. 2007;5(5):991–1004.
  • Baralle D, Baralle M. Splicing in action: assessing disease causing sequence changes. J Med Genet. 2005;42(10):737–748.
  • Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041–5045.
  • Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. 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.
  • Waye JS, Eng B, Dutly F, Frischknecht H. α-Thalassemia caused by two novel splice mutations of the α2-globin gene: IVS-I-1 (G>A and G>T). Hemoglobin. 2009;33(6):519–522.
  • Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006;14(10):1074–1081.
  • Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Molec Cell Biol. 2004;5(2):89–99.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.