Here's a condition I'd
never heard of before. It was the diagnosis on a blood count I
examined which was pretty much normal *apart* from a marked
neutropenia; the blood film rather unremarkable.
There were several
references to this on-line; it speaks volumes that the most
readable was in wikipedia. Mind you this
one was helpful too.
To quote the Internet
":Neutropenia may be intermittent or persistent and is the
most common haematological finding" which was exactly what I
found.
An autosomal recessive
genetic disorder; several hundred cases have been recorded. Mean
lifespan of such patients is thirty five years, but this might be
something of an underestimate. However, there is considerable risk of
various complications at all ages. In infancy, primary concerns
include malabsorption, infection and restrictive pulmonary disease
secondary to the associated thoracic dystrophy.
In older individuals
premature deaths may arise secondary to haemorrhage, infection or
malignancy.
Males seem to be more
severely affected and more frequently suffer premature death than
females for no obvious reason.
Mind you affected
individuals will have long and productive lives; one such went on to
be an Olympic
figure skater.
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