Hereditary stomatocytosis: An underdiagnosed condition
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Hematology"
DOI: 10.1002/ajh.24929
Abstract: Hereditary stomatocytoses are a wide class of hemolytic anemias characterized by alterations of ionic flux with increased cation permeability that results in inappropriate shrinkage or swelling of the erythrocytes, and water lost or gained osmotically.… read more here.
Keywords: hematology; hereditary stomatocytosis; underdiagnosed condition; stomatocytosis underdiagnosed ... See more keywords
The evolving landscape of hereditary stomatocytosis.
Sign Up to like & getrecommendations! Published in 2025 at "Blood"
DOI: 10.1182/blood.2024024294
Abstract: Hereditary stomatocytosis represents a heterogeneous group of inherited erythrocyte membrane defects characterized by hemolytic anemia of variable degree, with alterations in cellular salt and water, ranging from dehydration to overhydration, and the presence of stomatocytes… read more here.
Keywords: evolving landscape; hereditary stomatocytosis; landscape hereditary; stomatocytosis ... See more keywords
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
Sign Up to like & getrecommendations! Published in 2020 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-020-00864-x
Abstract: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in… read more here.
Keywords: hereditary stomatocytosis; case; dehydrated hereditary; mutation ... See more keywords