Sickle cell thalassaemia with crisis with acute chest syndrome (Q92046): Difference between revisions
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Doença causada por uma mutação genética da célula falciforme (HbS) de um progenitor e uma mutação da talassemia do outro progenitor. Esta doença é caracterizada por hemácias anormais rígidas em forma de foice e produção anormal da cadeia beta em uma molécula de hemoglobina e síndrome torácica aguda. Esta doença pode apresentar palidez, icterícia, dor torácica aguda, sobrecarga de ferro, fadiga ou falta de ar. A confirmação é feita por identificação de mutações por meio de testes genéticos. | |||
| description / en | description / en | ||
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, acute chest syndrome. This disease may present with pallor, jaundice, acute chest pain, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. | |||
Revision as of 07:12, 16 August 2026
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, acute chest syndrome. This disease may present with pallor, jaundice, acute chest pain, 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_1906098371 |
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| English | Sickle cell thalassaemia with crisis with acute chest syndrome |
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, acute chest syndrome. This disease may present with pallor, jaundice, acute chest pain, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. |
