Solving a cold case of haemolysis: back to the basics

Neth J Med. 2015 Feb;73(2):86-9.

Abstract

Membrane disorders comprise an important group of inherited haemolytic anaemias. Diagnostic work-up starts with examination of the blood smear, followed by osmotic gradient ektacytometry. In special cases DNA analysis is performed to confirm the diagnosis. For this purpose a next-generation sequencing-based method has been developed. The combination of these techniques established the correct diagnosis in a case of haemolytic anaemia of unknown cause.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Autoimmune / diagnosis*
  • Anemia, Hemolytic, Autoimmune / genetics
  • Female
  • Humans
  • Sequence Analysis, DNA / methods*
  • Young Adult