DOI 10.2478/immunohematology-2026-013
Rouleaux mimicking anti-H in molecularly confirmed para-Bombay siblings: a diagnostic pitfall.
Аннотация
The para-Bombay phenotype is a rare H-deficient blood group variant characterized by markedly reduced or absent expression of H on red blood cells (RBCs) because of mutations in FUT1, with variable secretor status influenced by FUT2. The Bombay phenotype is relatively more common in the Indian population, but the para-Bombay phenotype remains exceedingly rare and is frequently underrecognized because of diagnostic challenges during routine serologic testing. We report molecularly confirmed para-Bombay siblings from India in whom rouleaux-induced pseudoagglutination mimicked anti-H reactiv ity. The index case demonstrated absent reactivity with anti-H lectin and weak reactivity with pooled group O RBCs during reverse grouping and thermal amplitude testing, initially raising suspicion of clinically significant anti-H. However, detailed serologic evaluation, including microscopic examination, saline replacement, adsor ption-elution studies, and saliva inhibition testing, favored rouleaux-induced pseudoagglutination over true anti-H-mediated agglutination. Molecular analysis identified homozygous FUT1 c.328G>A and FUT2 c.357C>T mutations in both affected siblings, consistent with para-Bombay secretor phenotype and similar to previously reported variants in the Telangana population. This case highlights rouleaux-induced pseudoagglutination as an impor tant diagnostic pitfall in para-Bombay phenotypes. Integration of conventional serologic methods with molecular characterization was essential for accurate diagnosis, appropriate transfusion planning, and avoidance of unnecessary restrictions on compatible blood components.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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