Article
Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.
Chinese medical journal - 20 May 2020
Chen Dong-Mei, Ma Shi, Tang Xiang-Lan, Yang Ji-Yun, Yang Zheng-Lin
Abstract excerpt
BACKGROUND: Patients carrying the HongKongαα (HKαα) allele and -α/ααα could be misdiagnosed as -α/αα by the current conventional thalassemia detection methods, leading to inaccurate genetic counseling and an incorrect prenatal diagnosis. This study was aimed to accurately analyze the genotypes of HKαα carriers and -α/ααα. METHODS: Samples were collected in our hospital from July 2017 to October 2019. Twenty-four...
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