Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia

Hemoglobin. 2017 Jan;41(1):47-49. doi: 10.1080/03630269.2017.1290652. Epub 2017 Apr 3.

Abstract

We first report a novel β chain variant, Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild β-thalassemia (β-thal) phenotype, whereas compound heterozygosity of Hb Heze with β0-thal appears as the cause of β-thal intermedia (β-TI) in our case.

Keywords: hemoglobin (Hb) variant; β-Chain variant; β-thalassemia (β-thal).

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Asian People / genetics*
  • China
  • Codon
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Genotype
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • beta-Globins / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • beta-Globins