A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]

Hemoglobin. 2017 Jan;41(1):65-67. doi: 10.1080/03630269.2017.1289102. Epub 2017 Apr 2.

Abstract

We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α+-thalassemia (α+-thal) deletion [-α3.7 (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α0-thal deletion (--SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation.

Keywords: Hb Debao; nondeletional mutation; α-thalassemia; α2-globin gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Alternative Splicing
  • Amino Acid Substitution
  • Child
  • Codon
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Genotype
  • Hemoglobin A2 / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype
  • alpha-Globins / genetics*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / genetics*

Substances

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