Hereditary spherocytosis (Q91564): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
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+https://id.who.int/icd/entity/1305248013
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+CID11:ID_1305248013
@@ Property / CURIE: CID11:ID_1305248013 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1305248013
@@ Property / Canary Token: dki-india-ID_1305248013 / rank @@
+Normal rank
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+Concluído
@@ Property / Verification Status: Concluído / rank @@
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@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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.