Advances in understanding the pathogenesis of red cell membrane disorders
| Autor: | Achille Iolascon, Roberta Russo, Immacolata Andolfo |
|---|---|
| Přispěvatelé: | Iolascon, A., Andolfo, I., Russo, Roberta |
| Rok vydání: | 2019 |
| Předmět: |
Hereditary elliptocytosis
Erythrocytes Abnormal Spherocytosis Hereditary Biology Anemia Hemolytic Congenital Hereditary spherocytosis genetic heterogeneity 03 medical and health sciences 0302 clinical medicine variable expressivity medicine Humans Alleles hereditary stomatocytosi Overhydrated hereditary stomatocytosis Erythrocyte Membrane hereditary spherocytosi Elliptocytosis Hereditary Membrane Proteins Hematology medicine.disease Southeast Asian ovalocytosis Cell biology Red blood cell medicine.anatomical_structure Hereditary stomatocytosis 030220 oncology & carcinogenesis Dehydrated hereditary stomatocytosis next-generation sequencing Hereditary pyropoikilocytosis 030215 immunology |
| Zdroj: | British Journal of Haematology. 187:13-24 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/bjh.16126 |
| Popis: | Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened erythrocyte survival. 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-expression genetic variants on the high inter- and intra-familial phenotype variability of erythrocyte structural defects. |
| Databáze: | OpenAIRE |
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