Article
A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.
British journal of haematology - 1 Sept 2023
Zhang Yanxia, Xie Hongting, Liang Guanxia, Qin Yunrong, Wei Xiaofeng, Ning Sisi, Liang Yi, Liang Xiongda, Xie Yuling, Lin Zezhang, Zhu Dina, Lin Jiaqiong, Xiong Fu, Xu Xiangming, Shang Xuan
Abstract excerpt
Haemoglobin H (Hb H) disease (intermediate status of α-thalassemia) shows marked phenotypic variability from asymptomatic to severe anaemia. Apart from the combined β-thalassemia allele ameliorating clinical severity, reports of genetic modifier genes affecting the phenotype of Hb H disease are scarce which bring inconvenience to precise diagnosis and genetic counselling of the patients. Here, we present a novel...
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