What investigations are recommended to determine the underlying cause of this

Clinical answer with reasoning, red flags and references. Clinically reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP.

Posted: 6 June 2026Updated: 6 June 2026 Clinically Reviewed
Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX

Recommended investigations to determine the underlying cause of hypoxemia and erythrocytosis include:

  • Full history and physical examination focusing on symptoms and signs suggestive of primary polycythaemia vera (e.g., pruritus, splenomegaly), secondary causes (cardiopulmonary disease, renal disease), and apparent erythrocytosis (smoking, dehydration, diuretics) .
  • Measure oxygen saturation by pulse oximetry at rest to assess hypoxemia; abnormal values (<92%) suggest possible secondary erythrocytosis due to cardiopulmonary disease ,.
  • Blood tests including haemoglobin, haematocrit, mean corpuscular volume, white blood cell count, platelet count, liver function tests, urea and electrolytes, and estimated glomerular filtration rate to evaluate hematologic status and exclude renal or hepatic causes .
  • Repeat blood tests after a minimum of two months following interventions to improve hypoxia (e.g., smoking cessation, oxygen therapy) to confirm persistence of erythrocytosis before further investigation ,.
  • Consider measuring erythropoietin level: low in polycythaemia vera (primary) and raised in secondary erythrocytosis .
  • JAK2 V617F mutation testing to confirm or exclude polycythaemia vera if suspected clinically or on blood results .
  • Urine dipstick analysis to screen for renal causes .
  • Chest radiograph and consider arterial blood gases to assess lung pathology and degree of hypoxia, especially in context of lung disease or long COVID ,.
  • Screen for obstructive sleep apnoea/hypoventilation syndrome with sleep studies (respiratory polygraphy and possibly transcutaneous CO2 monitoring) if clinical suspicion exists, particularly in patients with hypoxaemia and risk factors such as obesity .
  • Monitor cardiovascular risk factors and assess need for referral if primary haematological disorder is suspected or if hypoxaemia and erythrocytosis persist despite treatment ,.

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