Articles with "stomatocytosis" as a keyword



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Hereditary stomatocytosis: An underdiagnosed condition

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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
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Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis

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Published in 2020 at "Annals of Hematology"

DOI: 10.1007/s00277-020-04295-w

Abstract: Dear Editor, The paradoxical combination of absolute erythrocytosis with hemolysis can occur with few high-affinity hemoglobin variants and rarely with polycythemia vera (PV) [1, 2]. Familial (Chuvash) erythrocytosis-2 (OMIM #263400), a rare autosomal recessive disorder… read more here.

Keywords: g6pd kerala; erythrocytosis; hemolysis; chuvash polycythemia ... See more keywords
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New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

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Published in 2022 at "Frontiers in Physiology"

DOI: 10.3389/fphys.2022.918620

Abstract: The K+ channel activated by the Ca2+, KCNN4, has been shown to contribute to red blood cell dehydration in the rare hereditary hemolytic anemia, the dehydrated hereditary stomatocytosis. We report two de novo mutations on… read more here.

Keywords: dehydration; stomatocytosis; new kcnn4; red blood ... See more keywords