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

John S Gibson, Gordon W Stewart, David C Rees

Journal: British journal of haematology 2023;203(4):509-522

PMID: 37679660

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Abstract

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 for the band 3 anion exchanger; PIEZO1, coding for a mechanosensitive cation channel; GLUT1, coding for a glucose transporter; KCNN4, coding for an internal-calcium-activated potassium channel; and ABCB6, coding for a porphyrin transporter. This review describes the five clinical syndromes associated with genetic defects in these genes and their variable genotype/phenotype relationships.

Address: Division of Medicine, Faculty of Medical Sciences, University College London, London, UK.; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.; Haematological Medicine, Kings College London, London, UK.

DOI: 10.1111/bjh.19093

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MeSH Terms: Humans, Anemia, Hemolytic, Congenital, Erythrocytes, Membrane Proteins, Anemia, Hemolytic, Cations, Ion Channels