Anaemia-based screening for resistance to thyroid hormone alpha in children.
Gözde Akın KağızmanlıOzgur KirbiyikAyhan AbaciEce BöberUluç YaşKorcan DemirPublished 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.