Unstable Hemoglobin Variants: The Need for Clinical Vigilance in Infants with Congenital Jaundice

Hemoglobin. 2019 Jan;43(1):60-62. doi: 10.1080/03630269.2019.1582429. Epub 2019 May 15.

Abstract

Unstable hemoglobin (Hb) variants are a rare etiology of congenital jaundice caused by hemolytic anemia. For infant patients with jaundice this disorder is often under diagnosed or the last consideration. We report a 14-month-old boy, who presented with a long-standing jaundice. His diagnosis of Hb Sabine [β91(F7)Leu→Pro; HBB: c.275T > C] was not revealed until gene sequencing of the β-globin gene was performed.

Keywords: Hb Sabine; Hemoglobinopathies; hemolytic anemia; neonatal jaundice; unstable hemoglobin (Hb).

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Biomarkers
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Hemoglobins / genetics*
  • Hemoglobins / metabolism
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant
  • Jaundice / diagnosis
  • Jaundice / genetics*
  • Jaundice / metabolism*
  • Male
  • Mutation
  • Protein Stability
  • beta-Globins / genetics

Substances

  • Biomarkers
  • Hemoglobins
  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin Sabine