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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 4
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Short Communication

A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism

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Pages 283-285 | Received 27 Aug 2018, Accepted 25 Sep 2018, Published online: 09 Jan 2019

References

  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004;32:(Database issue):537–541. http://globin.cse.psu.edu).
  • Ugrin M, Stojiljkovic M, Zukic B, et al. Functional analysis of an Aγ-globin gene promoter variant (HBG1: g.-225_222delAGCA) underlines its role in increasing fetal hemoglobin levels under erythropoietic stress. Hemoglobin 2016;40(1):48–52.
  • Ataulfo Gonzalez F, Ropero P, Sánchez J, et al. C→T Mutation at –158 Gγ HPFH associated with 4 bp deletion (-225-222) in the promoter region of the Aγ gene in homozygous β0 39 nonsense thalassemia. Haematologica 1999;84(1):90–92.
  • Danjou F, Francavilla M, Anni F, et al. A genetic score for the prediction of beta-thalassemia severity. Haematologica 2015;100(4):452–457.

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