Scientific Letters
Vol. 18 No. 1 (2026): Mediterranean Journal of Hematology and Infectious Diseases
https://doi.org/10.4084/MJHID.2026.016

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the “ICHNOS” Project

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Received: June 1, 2025
Accepted: December 28, 2025
Published: January 1, 2026
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Authors

Daniela Perra
Dipartimento di Scienze e Sanità Pubblica, Università di Cagliari –Ematologia e CTMO, P.O. Oncologico Businco, ARNAS Brotzu, Cagliari, Italy, Italy.
Carmela Zizzo
Istituto per la Ricerca e Innovazione Biomedica (IRIB), Consiglio Nazionale per le Ricerche (CNR), Palermo, Italy, Italy.
Olga Mulas
1. Dipartimento di Scienze e Sanità Pubblica, Università di Cagliari –Ematologia e CTMO, P.O. Oncologico Businco, ARNAS Brotzu, Cagliari, Italy, Italy.
Luigi Podda
Ematologia e CTMO AOU di Sassari, Sassari, Italy, Italy.
Francesco Longu
Ematologia e CTMO AOU di Sassari, Sassari, Italy, Italy.
Claudio Fozza
Ematologia e CTMO AOU di Sassari, Sassari, Italy, Italy.
Angelo Palmas
Ematologia e CTMO, Ospedale San Francesco di Nuoro, Italy, Italy.
Luigi Curreli
Dipartimento delle Cure Mediche Ospedaliere, Oncologia-Ematologia, Ospedale San Martino, Oristano, Italy, Italy.
Alessandro Costa
alessandro.costa@aob.it
a:1:{s:5:"en_US";s:48:"Department of Medical Sciences and Public Health";}, Italy.
Maria Domenica Cappellini
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, SC Medicina ad Indirizzo Metabolico, Milan, Italy, Italy.
Giovanni Caocci
Dipartimento di Scienze e Sanità Pubblica, Università di Cagliari –Ematologia e CTMO, P.O. Oncologico Businco, ARNAS Brotzu, Cagliari, Italy, Italy.

Background: Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are rare, chronic, function progressive, and debilitating disorders caused by the altered lysosomal enzymes glucocerebrosidase (GCase) in GD and sphingomyelinase (ASM) in ASMD respectively. These pathologies share several clinical manifestations, and their real incidence is underestimated.

 

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“Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the ‘ICHNOS’ Project” (2026) Mediterranean Journal of Hematology and Infectious Diseases, 18(1), p. e2026016. doi:10.4084/MJHID.2026.016.
Copyright (c) 2026 Daniela Perra, Carmela Zizzo, Olga Mulas, Luigi Podda, Francesco Longu, Claudio Fozza, Angelo Palmas, Luigi Curreli, Alessandro Costa, Maria Domenica Cappellini, Giovanni Caocci Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.