Sickle cell thalassaemia with crisis with splenic sequestration (Q92037)
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A disease caused by genetically inherited sickle cell (HbS) mutation from one parent and a thalassemia mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and abnormal production of the beta chain in a haemoglobin molecule and, splenic sequestration. This disease may present with pallor, jaundice, enlargement of spleen, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2064738223 |
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| English | Sickle cell thalassaemia with crisis with splenic sequestration |
A disease caused by genetically inherited sickle cell (HbS) mutation from one parent and a thalassemia mutation from the other parent. This disease is characterised by abnormal rigid sickle-shaped red blood cells and abnormal production of the beta chain in a haemoglobin molecule and, splenic sequestration. This disease may present with pallor, jaundice, enlargement of spleen, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. |
