Issue: 2015 > February > special report

Solving a cold case of haemolysis: Back to the basics



SPECIAL REPORT
R. Bijleveld, J. de Kok, B. van der Zwaag, R. van Wijk, T. Diekman
AbstractFull textPDF

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.