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Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) altered membrane transport function (overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis or xerocytosis, familial pseudohyperkalaemia and cryohydrocytosis). Herein we provide a comprehensive review of the recent literature on the molecular genetics of erythrocyte membrane defects and their reported clinical consequences. We also describe the effect of low\u2010expression genetic variants on the high inter\u2010 and intra\u2010familial phenotype variability of erythrocyte structural defects.<\/jats:p>","DOI":"10.1111\/bjh.16126","type":"journal-article","created":{"date-parts":[[2019,7,31]],"date-time":"2019-07-31T03:18:34Z","timestamp":1564543114000},"page":"13-24","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":97,"title":["Advances in understanding the pathogenesis of red cell membrane disorders"],"prefix":"10.1111","volume":"187","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9558-0356","authenticated-orcid":false,"given":"Achille","family":"Iolascon","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II\u201d University of Naples Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0493-812X","authenticated-orcid":false,"given":"Immacolata","family":"Andolfo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II\u201d University of Naples Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3624-7721","authenticated-orcid":false,"given":"Roberta","family":"Russo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies Federico II\u201d University of Naples Naples Italy"},{"name":"CEINGE \u2013 Biotecnologie Avanzate Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2899"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115250"},{"key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1182\/blood.V81.10.2791.2791","article-title":"A splice site mutation of alpha\u2010spectrin gene causing skipping of exon 18 in hereditary elliptocytosis","volume":"81","author":"Alloisio N.","year":"1993","journal-title":"Blood"},{"key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1182\/blood.V88.3.1062.1062","article-title":"Hereditary spherocytosis with band 3 deficiency. 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