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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 4
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Short Communications

Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease

ORCID Icon, ORCID Icon, &
Pages 297-301 | Received 26 May 2020, Accepted 08 Jul 2020, Published online: 28 Jul 2020

References

  • Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5:13
  • Cao J, He S, Pu Y, et al. Prenatal diagnosis and molecular analysis of a large novel deletion (- -JS) causing α0-thalassemia. Hemoglobin. 2017;41(4–6):243–247.
  • Zhuang JJ, Tian J, Wei J, et al. Molecular analysis of a large novel deletion causing α+-thalassemia. BMC Med Genet. 2019;20(1):74
  • Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101(3):791–800.
  • Tan AS, Quah TC, Low PS, et al. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood. 2001;98(1):250–251.
  • Brennan SO, Wang D, Horridge M, et al. Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: a hyperunstable variant due to a new mutation on the α1 gene. Hemoglobin. 2017;41(2):140–143.
  • Mota NO, Kimura EM, Ferreira RD, et al. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients. Genet Mol Biol. 2017;40(4):768–773.
  • Nadkarni AH, Nair SB, Italia KY, et al. Molecular diversity of hemoglobin H disease in India. Am J Clin Pathol. 2010;133(3):491–494.
  • Origa R, Moi P. Alpha-thalassemia. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews® [Internet]. Seattle (WA, USA): University of Washington, Seattle; 2005 November 1. [Updated 2016 Dec 29]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu).
  • Wang Y, Liu C, Zhang L, et al. Identification of a novel 44.6-kb deletion causing α0-thalassemia in southern China. Int J Lab Hematol. 2017;39(4):e94–e97.
  • Wong C, Dowling C, Saiki R, et al. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature. 1987;330(6146):384–386.
  • Edison ES, Shaji RV, Devi SG, et al. Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet. 2008;73(4):331–337.
  • Mota NO, Kimura EM, Ferreira RD, et al. A novel α0-thalassemia deletion in a Brazilian child with Hb H disease [– –(Braz)]. Int J Lab Hematol. 2017;39(4):e106–e109.
  • Yuregir OO, Ayaz A, Yalcintepe S, et al. Detection of α thalassemia by using multiplex ligation-dependent probe amplification as an additional method for rare mutations in southern Turkey. Indian J Hematol Blood Transfus. 2016;32(4):454–459.

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