Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 3
52
Views
1
CrossRef citations to date
0
Altmetric
Short Communication

A New Stable α Chain Variant: Hb Basel [α14(A12)Trp→Leu (α1)]

, , , &
Pages 327-331 | Received 18 Nov 2009, Accepted 28 Jan 2010, Published online: 04 Jun 2010

REFERENCES

  • Harteveld CL, Wijermans PW, de Ree JE, A new Hb Evanston allele [α14(A12)Trp→Arg] found solely, and in the presence of common α-thalassemia deletions, in three independent Asian cases. Hemoglobin. 2004;28(1):1–5.
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
  • Globin Gene Server (http://globin.cse.psu.edu).
  • Moradkhani K, Préhu C, Old J, Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009;88(6):535–543.
  • Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Mosca A, Paleari R, Ivaldi G, Galanello R, Giordano PC. The role of Haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol. 2009;62(1):13–17.
  • den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109(1):121–124.
  • Molchanova TP, Pobedimskaya DD, Huisman THJ. The differences in quantities of α2-and α1-globin gene variants in heterozygotes. Br J Haematol. 1994;88(2):300–306.
  • Sardón Estévez N, Herruer MH, Jansen R, Bergkamp FJ, Gorgels JP. Diagnostic value of zinc protoporphyrin in a screening strategy for α-thalassemia. Eur J Haematol. 2009;82(5):393–397.
  • Honig GR, Shamsuddin M, Vida LN, Hemoglobin Evanston (α14 Trp→Arg). An unstable α-chain variant expressed as α-thalassemia. J Clin Invest. 1984;73(6):1740–1749.
  • Moo-Penn WF, Baine RM, Jue DL, Johnson MH, McGuffey JE, Benson JM. Hemoglobin Evanston: α14(A12) Trp→Arg. A variant hemoglobin associated with α-thalassemia-2. Biochim Biophys Acta. 1983;747(1-2):65–70.
  • Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of α-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol. 2003;74(2):99–103.

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.