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Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 5
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Short Communications

First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population

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Pages 325-328 | Received 05 Sep 2021, Accepted 18 Nov 2021, Published online: 09 Dec 2021

References

  • Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61–76.
  • Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196.
  • Weatherall DJ, Clegg JB. The thalassaemia syndromes. 4th ed. Oxford: Blackwell Science Ltd., 2001.
  • Peixeiro I, Silva AL, Romão L. Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype. Haematologica. 2011;96(6):905–913.
  • Zubiaga AM, Belasco JG, Greenberg ME. The nonamer UUAUUUAUU is the key AU-rich sequence motif that mediates mRNA degradation. Mol Cell Biol. 1995;15(4):2219–2230.
  • Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet. 1990;336(8719):834–837.
  • Chan OTM, Westover KD, Dietz L, et al. Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. Am J Clin Pathol. 2010;133(5):700–707.
  • Liu YT, Old JM, Miles K, et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66–69.
  • Long JC, Chakravarti A, Boehm CD, et al. Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. Am J Phys Anthropol. 1990;81(1):113–130.
  • Hino M, Ito H, Yamashiro Y, et al. The +1,506 (A>C) mutation in the 3' untranslated region affects β-globin expression. Hemoglobin. 2012;36(4):399–406.
  • Sinha S, Black ML, Agarwal S, et al. Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. Hugo J. 2009;3(1-4):51–62.
  • Nadkarni A, Gorakshakar A, Surve R, et al. Hematological and molecular analysis of novel and rare β-thalassemia mutations in the Indian population. Hemoglobin. 2009;33(1):59–65.
  • Chauhan W, Afzal M, Zaka-Ur-Rab Z, et al. A novel frameshift mutation, deletion of HBB:c.199_202delAAAG [codon 66/67 (-AAAG)] in β-thalassemia major patients from the western region of Uttar Pradesh, India. Appl Clin Genet. 2021;14:77–85.
  • Hino M, Yamashiro Y, Hattori Y, et al. Identification of a novel mutation in the β-globin gene 3' untranslated region [+1,506 (A>C)] in a Japanese male with a heterozygous β-thalassemia phenotype. Hemoglobin. 2012;36(2):170–176.
  • Chen W, Zhang X, Shang X, et al. The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet. 2010;11:31.

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