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The phenotypes of sickle cell disease: strategies to aid the identification of undiagnosed patients in the Italian landscape

28 May 2025

Abstract excerpt

Sickle cell disease (SCD) is an inherited autosomal recessive monogenic blood disorder characterized by red blood cell sickling responsible for recurrent vaso-occlusive crises and chronic hemolysis. Clinical manifestations vary and SCD patients experience increased morbidity and mortality. In Italy, SCD patients cluster into two distinct subpopulations: those of sub-Saharan African descent and those of Caucasian...

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PMID: 40437545
DOI: 10.1186/s13052-025-01992-y

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