First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family

Hemoglobin. 2017 Jul-Nov;41(4-6):286-287. doi: 10.1080/03630269.2017.1408647. Epub 2017 Dec 18.

Abstract

We have found an example of the mutation at the intronic region of the second intervening sequence of the β-globin gene, IVS-II-705 (T>G) (HBB: c.316-146T>G), in a Chinese family. The two subjects heterozygous for this mutation presented with typical β-thalassemia (β-thal) trait.

Keywords: IVS-II-705; mutation; splicing site; β-thalassemia (β-thal).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People
  • Family
  • Hemoglobins / genetics*
  • Heterozygote*
  • Humans
  • Introns*
  • Male
  • Mutation*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins
  • hemoglobin B