A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family

Hemoglobin. 2020 Jan;44(1):55-57. doi: 10.1080/03630269.2020.1714648. Epub 2020 Jan 15.

Abstract

β-Thalassemia (β-thal) is one of the most common inherited hemoglobin (Hb) disorders in southern China. Up to now, the mutation spectrum of β-thal has been increasingly broadened through various molecular methods. In this study, a 34-year-old female displaying microcytic, hypochromic anemia was first detected with a novel IVS-I-6 (T>G) (HBB: c.92+6T>G) mutation by Sanger sequencing. Pedigree analysis performed on her family showed that her mother and her daughter, who had abnormal hematological indices, also carried this mutation, while her other family members with normal hematological phenotypes, were not detected to carry any mutation. Based on the observed symptoms in this Chinese family, we concluded that this novel mutation was associated with a mild β-thal phenotype.

Keywords: novel mutation; β-Globin gene; β-thalassemia (β-thal).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Anemia, Hypochromic / diagnosis
  • Anemia, Hypochromic / ethnology
  • Anemia, Hypochromic / genetics*
  • Asian Continental Ancestry Group
  • Child
  • Family
  • Female
  • Gene Expression
  • Genotype
  • Hemoglobin A2 / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • beta-Globins / deficiency
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • beta-Globins
  • Hemoglobin A2