Sickle cell thalassaemia with crisis with fever (Q92039): 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, crises e febre. Essa doença pode apresentar-se com palidez, icterícia, febre, sobrecarga de ferro, fadiga, ou falta de ar. A confirmação é feita pela identificação de mutações por testagem genética. | |||
| 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, crisis and, fever. This disease may present with pallor, jaundice, fever, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. | |||
Revision as of 07:11, 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, crisis and, fever. This disease may present with pallor, jaundice, fever, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1367362159 |
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| English | Sickle cell thalassaemia with crisis with fever |
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, crisis and, fever. This disease may present with pallor, jaundice, fever, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. |
