" /> Hereditary spherocytosis - CISMeF





Preferred Label : Hereditary spherocytosis;

ICD-11 definition : 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.;

ICD-11 synonym : Acholuric (familial) jaundice; Minkowski-Chauffard disease; anaemia spherocytic; congenital spherocytic hemolytic anaemia; familial spherocytosis; Minkowski-Chauffard syndrome; congenital spherocytosis;

ICD-11 inclusion : acholuric icterus; congenital hemolytic jaundice; acholuric jaundice; hereditary spherocytic anaemia; congenital hemolytic icterus; spherocytosis; Congenital (spherocytic) haemolytic icterus; Acholuric (familial) jaundice;

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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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30/07/2025


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