Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 1
186
Views
14
CrossRef citations to date
0
Altmetric
Research Article

Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis

, , , &
Pages 24-27 | Received 02 May 2013, Accepted 16 Jun 2013, Published online: 07 Nov 2013

References

  • Madan N, Sharma S, Sood SK, et al. Frequency of β thalassemia trait and other hemoglobinopathies in Northern and Western India. Indian J Hum Genet. 2010;16(1):16–25
  • Giordano PC. Editorial: measurement of HbA2. Int J Hematol. 2012;34(4):335
  • Nadkarni A, Pawar A, Mudera V, et al. Clinical diversity of silent gene β-thalassemia among Indians. Ann Haematol. 1995;70(1):61–64
  • Phylipsen M, Gallivan MV, Arkesteijn SG, et al. Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics. Int J Lab Hematol. 2011;33(1):85–91
  • Colah RB, Gorakshakar AC, Lu CY, et al. Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassaemia syndromes. Indian J Haematol Blood Transfusion. 1997;15(1):10–13
  • Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet. 1990;336(8719):834–837
  • Shaji RV, Eunice SE, Baidya S, et al. Determination of the breakpoint and molecular diagnosis of a common α-thalassaemia-1 deletion in the Indian population. Br J Haematol. 2003;123(5):942–947
  • Bouva M, Harteveld CL, Delft P, Giordano PC. Known and new δ globin gene mutations and their diagnostic significance. Haematologica. 2006;91(1):129–132
  • De Angioletti M, Lacerra M, Sabato L, Carestia C. β + 45 G→C: a novel silent β-thalassaemia mutation, the first in the Kozak sequence. Br J Haematol. 2004;124(3):224–231
  • Bianco I, Cappabianca M, Foglietta E, et al. Silent thalassemias: genotypes and phenotypes. Haematologica. 1997;82(3):269–280
  • Mosca A, Paleari R, Ivaldi G, et al. The role of Haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol. 2009;62(1):13–17
  • Li J, Xie XM, Zhou JY, Li DZ. Co-inheritance of β and δ thalassemia compromising prenatal screening in a Chinese couple seeking prevention. Fetal Diagn Ther. 2011;30(1):73–76
  • Rund D, Filon D, Dowling C, et al. Molecular studies of β-thalassemia in Israel. Mutational analysis and expression studies. Ann NY Acad Sci. 1990;612:98–105
  • El-Kalla S, Mathews AR. Significant β-thalassemia heterogeneity in the United Arab Emirates. Hemoglobin. 1997;21(3):237–247
  • Underhill PA. Inferring human history: clues from Y-chromosome haplotypes. Cold Spring Harbor Symposia on Quantitative Biology, Vol. LXVIII. Cold Spring Harbor: Cold Spring Harbor Laboratory Press. 2003:487–493
  • Phylipsen M, Harteveld CL, de Metz M, et al. New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A2-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG]. Hemoglobin 2010;34(5):445–450

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.