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Anaemia-based screening for resistance to thyroid hormone alpha in children.

Gözde Akın KağızmanlıOzgur KirbiyikAyhan AbaciEce BöberUluç YaşKorcan Demir
Published in: Clinical endocrinology (2023)
This approach found one known patient with RTH-α but did not reveal any new cases. Notably, normo- or macrocytic anaemia did not persist in nearly half of the screened patients. A screening strategy that takes clinical findings and prominent laboratory features suggestive of RTH-α into account could lower unnecessary genetic analysis of THRA in patients presenting with neurological problems.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • genome wide
  • chronic kidney disease
  • mental health
  • peritoneal dialysis
  • prognostic factors
  • copy number
  • iron deficiency
  • patient reported