Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 2
114
Views
1
CrossRef citations to date
0
Altmetric
Short Communication

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family

, , &
Pages 141-142 | Received 13 Oct 2017, Accepted 08 Feb 2018, Published online: 13 Apr 2018

References

  • HbVar database (http://globin.cse-psu.edu).
  • Marti HR, Winterhalter KH, di Iorio EE, et al. Hb Altdorf α2β2135(H13)Ala→Pro: a new electrophoretically silent unstable haemoglobin variant from Switzerland. FEBS Lett. 1976;63(1): 193–196.
  • Rahbar S, Lee T, Asmeron Y. Hb Beckman α2β2135(H13) Ala→Glu: a new unstable variant and reduced oxygen affinity. Blood. 1991;78(Suppl. 1):204a.
  • Marsella M, Salvagno G, Dolcini B, et al. Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin. Hemoglobin. 2014;38(5):369–372.
  • Zubriggen K, Schmid M, Schmugge M, et al. Hb Alperton [β135(H13)Ala→Val] shows decreased oxygen affinity Hemoglobin. 2009;33(6):498–502.
  • Mehta PR, Upadhye DS, Sawant PM, et al. Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes. Ann Hematol. 2015;94(12): 1953–1958.

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.