Hemostasis Branch, Division of Hemostasis, Office of Plasma Protein Therapeutics CMC, Office of Therapeutic Products, Center for Biologics Evaluation and Research, US FDA, Silver Spring, Maryland, USA.
Br J Haematol. 2024 Feb;204(2):399-401. doi: 10.1111/bjh.19209. Epub 2023 Nov 20.
The genetic underpinnings of beta-thalassaemia encompass a myriad of molecular mechanisms. The ability of synonymous mutations, an often-overlooked category of variants, to influence β-globin expression and phenotypic disease is highlighted by this report by Gorivale et al. Commentary on: Gorivale et al. When a synonymous mutation breaks the silence in a thalassaemia patient. Br J Haematol 2024;204:677-682.
β-地中海贫血的遗传基础包含了无数的分子机制。Gorivale 等人的报告强调了同义突变（一种经常被忽视的变异类型）影响β-珠蛋白表达和表型疾病的能力。述评：当同义突变打破地中海贫血患者的沉默时。英国血液学杂志 2024；204：677-682。
