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Vox sanguinis · 2026

Molecular identification of Vel-negative blood donors in a population from southern Brazil.

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Siegel D, Schörner E J, Schörner M A, Grisard H, Barazzetti F H, Kupek E, Bazzo M L

Аннотация

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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты