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Completed 1

Blood test uncovers rare diseases in patients with mysterious enlarged spleen

Knowledge-focused Completed

This study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …

Matched conditions: ASMD

Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:06 UTC

ASMD

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Blood test uncovers rare diseases in patients with mysterious enlarged spleen