Shiraz E-Medical Journal

Published by: Kowsar

A Novel Mutation in the α2-Globin Gene in Two Unrelated Iranian Families

Tayebeh Hamzehloei 1 , * , Farnaz Mohajer Tehran 2 and Hosein Azimian 1
Authors Information
1 Medical Genetics Department, Mashhad University of Medical Sciences, Mashhad, IR Iran
2 Genetics Division, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, IR Iran
Article information
  • Shiraz E-Medical Journal: January 01, 2014, 15 (1); e19735
  • Published Online: January 15, 2014
  • Article Type: Research Article
  • Received: June 10, 2013
  • Revised: December 20, 2013
  • Accepted: April 10, 2014
  • DOI: 10.17795/semj19735

To Cite: Hamzehloei T, Mohajer Tehran F, Azimian H. A Novel Mutation in the α2-Globin Gene in Two Unrelated Iranian Families, Shiraz E-Med J. 2014 ; 15(1):e19735. doi: 10.17795/semj19735.

Copyright © 2014, Shiraz University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Objectives
3. Materials and Methods
4. Results
5. Discussion
  • 1. Higgs. D. R. . 5 α-Thalassaemia. Bailliere’s Clin Haematol. 1993; 6(1): 117-50[DOI]
  • 2. Clegg JB, Weatherall DJ, Milner PF. Haemoglobin Constant Spring--a chain termination mutant? Nature. 1971; 234(5328): 337-40[PubMed]
  • 3. Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A. 1981; 78(8): 5041-5[PubMed]
  • 4. Goossens M, Lee KY, Liebhaber SA, Kan YW. Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia. Nature. 1982; 296(5860): 864-5[PubMed]
  • 5. Liebhaber SA, Kan YW. alpha-Thalassemia caused by an unstable alpha-globin mutant. J Clin Invest. 1983; 71(3): 461-6[PubMed]
  • 6. Higgs DR, Goodbourn SE, Lamb J, Clegg JB, Weatherall DJ, Proudfoot NJ. Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature. 1983; 306(5941): 398-400[PubMed]
  • 7. Morle F, Lopez B, Henni T, Godet J. alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon. EMBO J. 1985; 4(5): 1245-50[PubMed]
  • 8. Pirastu M, Saglio G, Chang JC, Cao A, Kan YW. Initiation codon mutation as a cause of alpha thalassemia. J Biol Chem. 1984; 259(20): 12315-7[PubMed]
  • 9. Huisman THJ, Jonxis JHP. Clinical and Biochemical Analysis. 1997;
  • 10. Bisse E, Wieland H. High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins. J Chromatogr. 1988; 434(1): 95-110[PubMed]
  • 11. Nasiri H, Forouzandeh M, Rasaee MJ, Rahbarizadeh F. Modified salting-out method: high-yield, high-quality genomic DNA extraction from whole blood using laundry detergent. J Clin Lab Anal. 2005; 19(6): 229-32[DOI][PubMed]
  • 12. Tan ASC. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha -thalassemia. Blood. 2001; 98(1): 250-1[DOI]
  • 13. Hatton CS, Wilkie AO, Drysdale HC, Wood WG, Vickers MA, Sharpe J, et al. Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. Blood. 1990; 76(1): 221-7[PubMed]
  • 14. Liebhaber SA, Griese EU, Weiss I, Cash FE, Ayyub H, Higgs DR, et al. Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster. Proc Natl Acad Sci U S A. 1990; 87(23): 9431-5[PubMed]
  • 15. Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA. Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes. Blood. 1991; 78(6): 1589-95[PubMed]
  • 16. Wilkie AO, Lamb J, Harris PC, Finney RD, Higgs DR. A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature. 1990; 346(6287): 868-71[DOI][PubMed]
  • 17. Chen FE, Ooi C, Ha SY, Cheung BM, Todd D, Liang R, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000; 343(8): 544-50[DOI][PubMed]
  • 18. Grosveld F, van Assendelft GB, Greaves DR, Kollias G. Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell. 1987; 51(6): 975-85[DOI]
  • 19. Loyd MR, Okamoto Y, Randall MS, Ney PA. Role of AP1/NFE2 binding sites in endogenous alpha-globin gene transcription. Blood. 2003; 102(12): 4223-8[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:



Create Citiation Alert
via Google Reader

Readers' Comments