Article
An Evaluation for the Causes of Reduced Hb A2 and the Molecular Characterization of HBD Variants in Hong Kong.
Hemoglobin - 1 Nov 2021
Chan Nelson C N, Wong Terry H Y, Cheng Kelvin C K, Chan Natalie P H, Ng Margaret H L
Abstract excerpt
Prenatal screening of β-thalassemia (β-thal) carriers is based on the hallmark phenotype of microcytosis and raised Hb A2. The unanticipated birth of β-thal major (β-TM) offspring to β-thal carriers who were misdiagnosed during prenatal screening have been reported. A subset of these resulted from the masked phenotype due to the coinheritance of HBD variants. In a broader sense, the causes of reduced Hb A2 in...
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