This is (supposed to be) a reflective diary by a (not very) anonymous biomedical scientist who works somewhere in the south of England.
One day this diary may well be submitted to the Health and Care Professions Council as evidence of ongoing continual professional development....
of our consultants has started doing a “Case of the Week” for which I am very
“This week's blood film shows small contacted
red cells with spikey projections. We used to call these 'Sputnik' cells after
the first Russian satellite launched in 1957. Actually, looking at Sputnik,
they don't really look like that as the spikes are all over the red cell, not
just on one side. 'Prickle cells' may be a better term
This is a blood film
from a patient with pyruvate kinase deficiency.
This is an autosomal
recessive condition and is the commonest inherited disorder of the glycolytic
(or Embden Meyerhof) pathway in the red cell that converts glucose to pyruvate
PK is enzyme that
converts phosphoenolpyruvate to pyruvate with the production of ATP.
Deficiency causes a
haemolytic anemia which varies considerably in its clinical presentation from
hydrops to neonatal jaundice to haemolysis presenting in childhood.
This is because there
are over 200 mutations that have been found in the PKLR (liver and red cell)
gene on chromosome 1.
deficiency causes an accumulation of products upstream in the pathway including
2, 3 DPG. This shifts the oxygen dissociation curve to the right, resulting in
increased delivery of oxygen to the tissues. Consequently, although patients are
anaemic, they often tolerate it reasonably well.
Treatment is mostly
supportive with red cell transfusions if required. Occasional patients with
severe disease have been cured with an allogeneic stem cell transplant”