Article
Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family.
Journal of clinical pathology - 1 Dec 2023
He Sheng, Wang Bolian, Yi Shang, Huang Zhenyan, Liang Lifang, Peng Zhenren, Song Pengshu, Chen Biyan, Chen Faqin, Wei Hongwei
Abstract excerpt
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...
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