Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 24, 2000 - Issue 1
55
Views
19
CrossRef citations to date
0
Altmetric
Original Article

Hb Sallanches [α104(G11)Cys→Tyr]: A Rare α2-Globin Chain Variant Found in the Homozygous State in Three Members of a Pakistani Family

, , &
Pages 31-35 | Received 17 Aug 1999, Accepted 11 Oct 1999, Published online: 07 Jul 2009

References

  • Higgs D. R. α‐Thalassaemia. The Haemoglobinopathies, D. R. Higgs, D. J. Weatherall. Bailliere Tindall, LondonEngland 1993; 117–150
  • Dacie J. V., Lewis S. M. Preparation and staining methods for blood and bone marrow films. Practical Haematology6th edition, J. V. Dacie, S. M. Lewis. Churchill Livingstone, EdinburghScotland 1984; 52–54
  • Dacie J. V., Lewis S. M., Catovsky D. Blood cell cytochemistry and supplementary techniques. Practical Haematology6th edition, J. V. Dacie, S. M. Lewis. Churchill Livingstone, EdinburghScotland 1984; 110–111
  • Dodé C., Rochette J., Krishnamoorthy R. Locus assignment of human α‐globin mutations by selective amplification and direct sequencing. Br. J. Haematol. 1990; 76: 275–281
  • Dode C., Krishnamoorthy R., Lamb J., Rochette J. Rapid analysis of‐α3.7 thalas‐semia and αααanti 3.7 triplication by enzymatic amplification analysis. Br. J. Haematol. 1993; 83: 105–111
  • Baysal E., Huisman T. H. J. Detection of common deletional α‐thalassemia‐2 determinants by PCR. Am. J. Haematol. 1994; 46: 208–213
  • Bowden D. K., Vickers M. A., Higgs D. R. A PCR‐based strategy to detect the common severe determinants of α‐thalassaemia. Br. J. Haematol. 1992; 81: 104–108
  • Pirastu M., Saglio G., Chang J. C., Cao A., Kan Y. W. Initiation codon mutation as acauseofa‐thalassemia. J. Biol Chem. 1984; 259: 12315–12317
  • Moi P., Cash F. E., Liebhaber S. A., Cao A., Pirastu M. An initiation codon mutation (AUG‐GUG) of the human α1‐–globin gene. Structural characterization and evidence for a mild thalassemic phenotype. J. Clin. Invest. 1987; 80: 1416–1421
  • Orkin S. H., Goff S. C., Hechtman R. L. Mutation in an intervening sequence splice junction in man. Proc. Natl. Acad. Sci. USA 1981; 78: 5041–5045
  • Morlé F., Francina A., Ducrocq R., Wajcman H., Gonnet C., Philippe N., Souillet G., Godet J. A new a chain variant Hb Sallanches [α2104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br. J. Haematol. 1995; 91: 608–611
  • Préhu C., Préhu M. O., Privato M., Maisonneuve H., Bardakdjian J., Wajcman H., Goossens M., Galacteros F. Hb Sallanches (α 104 (G11) Cys→Tyr) in association with an α‐3.7 Kb deletion leads to HbH disease. Br. J. Haematol. 1996; 93: 25
  • Michelson A. M., Orkin S. H. The 3′ untranslated regions of the duplicated human α‐globin genes are unexpectedly divergent. Cell 1980; 22: 371–377
  • Huisman T. H. J., Carver M. F. H., Efremov G. D. A Syllabus of Human Hemoglobin Variants(second edition). The Sickle Cell Anemia Foundation, Augusta, GAUSA 1998, htto://dobin.cse.osu.edu
  • Higgs D. R., Vickers M. A., Wilkie A. O. M., Pretorius I‐M., Jarman A. P., Weatherall D. J. A review of the molecular genetics of the human α‐globin gene cluster. Blood 1989; 73: 1081–1104

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.