Well… presumably the chap is not unwell?
The Hb of 18.4 isn’t especially high…
The JAK2 being negative pretty much
rules out polycythaemia rubra vera (or polycythaemia Rupert Bear as I once
heard it called).
Erythropoetin receptor mutations usually
result in low levels of EPO so that is pretty much ruled out too.
EPO levels are typically higher in
individuals with pulmonary diseases.
My gut feeling is that this would be a
relative erythrocytosis until I saw the P50 was low.
This might be a haemoglobinopathy with a
high affinity haemoglobin… A
haemoglobinopathy was the correct answer. I got it right... but this would be *very*
obscure.
Here’s an article on erythrocytosis
with several useful links.
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