Hereditary spherocytosis (Q91564): Difference between revisions
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Anemia hemolítica resultante de anormalidades na proteína de membrana dos glóbulos vermelhos e é causada por uma mutação geneticamente herdada levando a anemia hemolítica não imune mediada. Esta doença é caracterizada pela produção de glóbulos vermelhos que tem a forma de esfera (esferocitose) em vez do formato do disco bicôncavo normal. Esta diferença no formato tornam os glóbulos vermelhos mais propensos a se romper. Esta doença pode se manifestar com palidez, icterícia, aumento do baço, fadiga e falta de ar. A confirmação é pela identificação da mutação através de teste genético | |||
| description / en | description / en | ||
A haemolytic anaemia resulting from red blood cell membrane protein anomalies and is caused by a genetically inherited mutation leading to non-immune mediated haemolytic anaemia. This disease is characterised by production of red blood cells that are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. This difference in shape makes the red blood cells more prone to rupture. This disease may present with pallor, jaundice, enlarged spleen, fatigue, or shortness of breath. Confirmation is by identification of mutation through genetic testing. | |||
Revision as of 18:35, 15 August 2026
A haemolytic anaemia resulting from red blood cell membrane protein anomalies and is caused by a genetically inherited mutation leading to non-immune mediated haemolytic anaemia. This disease is characterised by production of red blood cells that are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. This difference in shape makes the red blood cells more prone to rupture. This disease may present with pallor, jaundice, enlarged spleen, fatigue, or shortness of breath. Confirmation is by identification of mutation through genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1305248013 |
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| English | Hereditary spherocytosis |
A haemolytic anaemia resulting from red blood cell membrane protein anomalies and is caused by a genetically inherited mutation leading to non-immune mediated haemolytic anaemia. This disease is characterised by production of red blood cells that are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. This difference in shape makes the red blood cells more prone to rupture. This disease may present with pallor, jaundice, enlarged spleen, fatigue, or shortness of breath. Confirmation is by identification of mutation through genetic testing. |
