Open AccessDiagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction
Author(s) -
Dongmei Chen,
Edmond S.K.,
Xianglan Tang,
Yang Jy,
Zhenglin Yang
Publication year - 2020
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000000768
Subject(s) - multiplex ligation dependent probe amplification , genotype , nested polymerase chain reaction , multiplex polymerase chain reaction , multiplex , thalassemia , microbiology and biotechnology , allele , polymerase chain reaction , medicine , biology , genetics , gene , exon
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.