Hereditary spherocytosis (Q91564): Difference between revisions
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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. |
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CID11:ID_1305248013
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dki-india-ID_1305248013
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