Hereditary stomatocytosis: An underdiagnosed condition

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. The last few years have been crucial for new ac...

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Veröffentlicht in:American journal of hematology 2018-01, Vol.93 (1), p.107-121
Hauptverfasser: Andolfo, Immacolata, Russo, Roberta, Gambale, Antonella, Iolascon, Achille
Format: Artikel
Sprache:eng
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Zusammenfassung: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. The last few years have been crucial for new acquisitions in this field in terms of identifying new causative genes and of studying their pathogenetic mechanisms. This review summarizes the main features of erythrocyte membrane transport diseases, dividing them into forms with either isolated erythroid phenotype (nonsyndromic) or extra‐hematological manifestations (syndromic), and focusing particularly on the most recent advances regarding dehydrated forms of hereditary stomatocytosis and familial pseudohyperkalemia.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.24929