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The cation‐leaky hereditary stomatocytosis syndromes: A tale of six proteins

7 Sept 2023

Abstract excerpt

This review concerns a series of dominantly inherited haemolytic anaemias in which the membrane of the erythrocyte 'leaks' the univalent cations, compromising the osmotic stability of the cell. The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier; SLC4A1, coding...

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PMID: 37679660
DOI: 10.1111/bjh.19093

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