Diamond-Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia

Abstract

Diamond-Blackfan anaemia (DBA) is a rare congenital disorder characterised by pure red cell aplasia and often associated with various congenital anomalies. This chronic condition has a heterogeneous genetic profile, typically inherited in an autosomal dominant manner, though rare cases of autosomal recessive inheritance exist. Most patients (90%) exhibit symptoms before 12 months of age, with the median age of presentation and diagnosis being approximately 2 months. This report presents a unique case of DBA identified at birth, resulting in a preterm delivery. The patient continues to be managed with frequent blood transfusions.