A 70-year-old female presents to her GP with intermittent pruritus | Medibuddy
31st May 2023

A 70-year-old female presents to her GP with intermittent pruritus

A 70-year-old female presents to her GP with intermittent pruritus. In particular, this affects her fingers and toes and is associated with a burning sensation and red discolouration. Her blood results are shown below:

Hb 180 g/L (120-170 g/L)
WCC 12.5 x 10⁹/L (3.6-11 x 10⁹/L)
Platelets 460 x 10⁹/L (150-400 x 10⁹/L)
HCT 0.62 (0.36-0.48)
EPO 0.6 mIU/ml (2.6-15.8 mIU/ml)
Bilirubin 16 µmol/L (<21 µmol/L)

Which genetic aberration is most likely to be responsible for this?

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