A Novel Mutation of the α2-Globin Gene Causing α+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)

Hemoglobin. 2017 Jan;41(1):56-58. doi: 10.1080/03630269.2017.1302950. Epub 2017 Apr 11.

Abstract

We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α+-thalassemia (α+-thal) patient.

Keywords: Hb Nanning; nondeletional mutation; α-Globin; α-thalassemia (α-thal).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles
  • Amino Acid Substitution
  • Biomarkers
  • Codon
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Genetic Association Studies
  • Hemoglobin A2 / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Sequence Deletion*
  • Young Adult
  • alpha-Globins / genetics*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / genetics*

Substances

  • Biomarkers
  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins
  • Hemoglobin A2