Thalassaemias (Q39512): Difference between revisions
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| description / pt-br | description / pt-br | ||
Doença causada por mutações autossômicas recessivas geneticamente herdadas levando à produção anormal de hemoglobina. Esta doença é caracterizada pela destruição dos glóbulos vermelhos levando a anemia e produção anormal de hemoglobina. Esta doença pode se manifestar com palidez, icterícia, sobrecarga de ferro, fadiga ou falta de ar. A confirmação é feita pela identificação das mutações por testagem genética. | |||
| description / en | description / en | ||
A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. | |||
Revision as of 04:57, 13 August 2026
A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, 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 | 3A50 |
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| English | Thalassaemias |
A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing. |
