Article
A novel frameshift mutation in RHAG leads to Rhnull phenotype in a Chinese individual.
Transfusion - 1 May 2024
Qing Yun, Zou Hai-Man, Liu Bu-Jin, Cui Dan-Li, Yang Jun-Hong, Huang Xia
Abstract excerpt
BACKGROUND: We recently encountered a Rhnull phenotype proband within one family in the Chinese population. Rhnull is a rare autosomal recessive disorder characterized by the absence of the Rh antigens on the erythrocyte membrane, resulting in chronic hemolytic anemia. This study described the serological and molecular analysis of a Chinese Rhnull proband and his immediate family. METHODS: Red blood cells antigen...
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