Issue: 2015 > February > special report

Solving a cold case of haemolysis: Back to the basics

R. Bijleveld, J. de Kok, B. van der Zwaag, R. van Wijk, T. Diekman
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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.