Molecular characterisation of Hb Akron [{beta}52 (D3) Asp->Val] combined with thalassaemia in a Chinese family

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.

Source: Journal of Clinical Pathology - November 17, 2023 Category: Pathology Authors: He, S., Wang, B., Yi, S., Huang, Z., Liang, L., Peng, Z., Song, P., Chen, B., Chen, F., Wei, H. Tags: Original research Source Type: research