Genotyping identifies Vel-negative phenotype in blood donors, suggesting enhanced transfusion safety strategies.
Background and Objectives The Vel antigen is clinically significant and its alloantibody is involved in haemolytic transfusion reactions. This antigen has a high prevalence in the population. The Vel‐negative phenotype is the result of a homozygous deletion in the SMIM1 gene (c.64_80del) and hinders the expression of the SMIM1 protein. Materials and Methods A total of 17,472 blood donor samples from the Center for Hematology and Hemotherapy of Santa Catarina State were genotyped targeting the 17‐nucleotide (c.64_80del) deletion in the SMIM1 gene. The same method was applied to the siblings of the donors identified as Vel‐negative. Results The frequency of the c.64_80del17 deletion was 0.90%, and 0.03% of the donors were Vel‐negative. In the family study, two individuals were identified as having the homozygous c.64_80del. Conclusion These findings underscore the relevance of identifying Vel‐negative donors for enhancing rare donor registries and improving transfusion safety.
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Siegel et al. (2026) studied this question.
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