A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
Daniele ZamaGiulia GiuliettiEdoardo MuratoreImmacolata AndolfoRoberta RussoAchille IolasconAndrea PessionPublished in: Italian journal of pediatrics (2020)
This case report highlights the importance of a correct and exhaustive diagnostic-workup in patients with clinical suspicious for hemolytic anemia in order to make a differential diagnosis. This is relevant for the management of these patients because splenectomy is contraindicated in DHS due to high thrombotic risk.