Article
Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese Gγ+(Aγδβ)0-thalassemia deletion in a Chinese family.
Clinical biochemistry - 1 Feb 2020
Du Li, Qin Danqing, Wang Jicheng, Yu Lihua, Yao Cuize, Liu Ling, Zhang Yanxia, Hu Tingting, Yuan Tenglong, Liang Jie, Yin Aihua
Abstract excerpt
OBJECTIVE: The clinical and hematologic features of thalassemia are due to different factors, and patients with identical genotypes may regularly exhibit variable severity. In the present work, one homozygous Chinese Gγ+(Aγδβ)0-thalassemia case with an asymptomatic phenotype, which is contrary to traditional views, was identified. Analysis of the underlying causes of this rare clinical phenotype involved accurate...
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