TY - JOUR T1 - Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family JF - Journal of Clinical Pathology JO - J Clin Pathol DO - 10.1136/jcp-2021-208133 SP - jclinpath-2021-208133 AU - Sheng He AU - Bolian Wang AU - Shang Yi AU - Zhenyan Huang AU - Lifang Liang AU - Zhenren Peng AU - Pengshu Song AU - Biyan Chen AU - Faqin Chen AU - Hongwei Wei Y1 - 2022/09/14 UR - http://jcp.bmj.com/content/early/2022/09/19/jcp-2021-208133.abstract N2 - Aims Hb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.Methods Haematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.Results Hb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.Conclusions We have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.All data relevant to the study are included in the article. ER -