Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis

Blood Cells Mol Dis. 2020 Nov:85:102462. doi: 10.1016/j.bcmd.2020.102462. Epub 2020 Jun 25.

Abstract

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c.364_366dupGTG) inherited from their asymptomatic father.

Keywords: Alpha thalassemia; Hemolysis; Hereditary elliptocytosis; Hyperbilirubinemia; Pyropoikilocytosis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / blood
  • Anemia, Hemolytic / complications*
  • Anemia, Hemolytic / genetics
  • Anemia, Hypochromic / blood
  • Anemia, Hypochromic / complications*
  • Anemia, Hypochromic / genetics
  • Elliptocytosis, Hereditary / blood
  • Elliptocytosis, Hereditary / complications*
  • Elliptocytosis, Hereditary / genetics
  • Humans
  • Infant, Newborn
  • Jaundice / blood
  • Jaundice / complications*
  • Jaundice / genetics
  • Male
  • Point Mutation
  • Spectrin / genetics
  • Twins, Dizygotic / genetics

Substances

  • Spectrin

Supplementary concepts

  • Anemia, hypochromic microcytic
  • Pyropoikilocytosis, Hereditary