Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Hemoglobin. 2019 May;43(3):207-209. doi: 10.1080/03630269.2019.1634591. Epub 2019 Aug 6.

Abstract

We describe here a previously unreported hemoglobin (Hb) variant, Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)] detected by newborn Hb screening in a term male with no family history for hemoglobinopathy or other screening abnormalities. This missense mutation produces a β-globin chain variant that was detected by high performance liquid chromatography (HPLC) methods, but is silent by capillary electrophoresis (CE). DNA sequencing studies revealed that his father was also a heterozygote for this mutation. Neither has abnormalities on complete blood count (CBC) or any symptomatology.

Keywords: Capillary electrophoresis (CE); hemoglobinopathy; high performance liquid chromatography (HPLC); neonatal screening.

Publication types

  • Case Reports

MeSH terms

  • Alleles*
  • Amino Acid Substitution*
  • Asymptomatic Diseases*
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Genotype
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / genetics*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • beta-Globins / analysis
  • beta-Globins / genetics*
  • beta-Globins / metabolism

Substances

  • Hemoglobins, Abnormal
  • beta-Globins