Hb H disease associated with compound heterozygosity for -- SEA deletion and a novel alpha globin chain variant ( HBA2 :c.175C>A) on the distal histidine in a Chinese family

Objectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening results, potentially leading to missed diagnoses in clinical practice.