Issue: 2018 > May > case report

Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels

K.F. de Geus, A.A. Anas, R. Franssen, F.A.M. Duijkers, H. Bikker, G.E. Linthorst
AbstractFull textPDF


A 61-year-old Ghanaian woman presented with dizziness and low oxygen saturations whereupon a methaemoglobin level of 24.9% was obtained. Initially it was thought to be caused by an unknown toxin. However, failure to normalise spontaneously and a short recurrence following administration of methylene blue suggested a congenital cause. Subsequently a novel variant in the CYB5R3 gene, coding for Cytochrome b5 reductase, was demonstrated. Absence of polycythaemia prompted additional analysis for
a concomitant haemoglobinopathy.