α+-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

Hemoglobin. 2017 May;41(3):185-188. doi: 10.1080/03630269.2017.1371035.

Abstract

A novel 811 bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α+-thalassemia (α+-thal). This is the first report of this deletional thalassemia anywhere in the world.

Keywords: novel deletion; thalassemia; α+-Thalassemia (α+-thal).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • China
  • Female
  • Genotype
  • Humans
  • Multigene Family
  • Sequence Analysis, DNA
  • Sequence Deletion*
  • alpha-Globins / genetics*
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / genetics*

Substances

  • alpha-Globins