August 11, 2025Transfusion MedicineOpen Access

Two novel variant allele of the RHD gene detected in two Chinese blood donors with the RHD negative phenotype

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Serological methods revealed two novel RHD mutations in blood donors, suggesting implications for blood transfusions and HDFN risks.

Two novel mutations in the RHD gene were identified that could lead to a D-negative phenotype, affecting blood compatibility.
The mutations c.802-1G>C and c.1154-2A>T were found to disrupt splicing in specific introns, introducing significant genetic variations.
Serological tests showed negative results with anti-D reagents, confirming the D-negative status of the probands.
These findings highlight the importance of recognizing RHD gene polymorphism for safe blood transfusions and pregnancies.

Mo et al. (2025) studied this question.

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