A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period

Ann Hematol. 2017 Jun;96(6):1067-1068. doi: 10.1007/s00277-017-2966-1. Epub 2017 Mar 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution*
  • Ankyrins / chemistry
  • Ankyrins / genetics*
  • Blood Transfusion
  • DNA Mutational Analysis
  • Exons / genetics
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases / genetics*
  • Jaundice, Neonatal / etiology
  • Jaundice, Neonatal / therapy
  • Mutation, Missense*
  • Point Mutation*
  • Spherocytosis, Hereditary / blood
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / therapy

Substances

  • ANK1 protein, human
  • Ankyrins