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

CONCLUSION: This rare case highlighted the importance of identifying rare haemoglobin variant during prenatal screening. The clinical and genetic data provides useful information on the pathogenicity of this variant and further insight into the role of distal histidine residue of α-globin.PMID:38626234 | DOI:10.1080/16078454.2024.2339559
Source: Hematology - Category: Hematology Authors: Source Type: research