Hereditary factor VIII deficiency with anti-factor VIII inhibitor (Q39573): Difference between revisions
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Doença causada por uma mutação geneticamente herdada levando a uma deficiência na coagulação devido à falta de fator VIII. Essa doença também causa a produção de anticorpos inibidores antifator VIII quando do recebimento de transfusões. Anticorpos inibidores antifator VIII desenvolvem-se diante do reconhecimento do fator VIII como estranho pelo organismo, o que resulta na ineficácia de infusões de fator VIII. Essa doença é caracterizada pelo aumento na ocorrência de hemorragias e equimoses. A confirmação é feita pela identificação de mutações por testagem genética. | |||
| description / en | description / en | ||
A disease caused by a genetically inherited mutation leading to a deficiency in clotting due to lack of factor VIII. This disease also causes anti-factor VIII inhibitor antibodies to be produced when receiving transfusions. Anti-factor VIII inhibitor antibodies develop as the body recognises the factor VIII as foreign, therefore deeming factor VIII infusions ineffective. This disease is characterised by increasing haemorrhaging and bruising. Confirmation is by identification of mutations by genetic testing. | |||
Revision as of 05:03, 13 August 2026
A disease caused by a genetically inherited mutation leading to a deficiency in clotting due to lack of factor VIII. This disease also causes anti-factor VIII inhibitor antibodies to be produced when receiving transfusions. Anti-factor VIII inhibitor antibodies develop as the body recognises the factor VIII as foreign, therefore deeming factor VIII infusions ineffective. This disease is characterised by increasing haemorrhaging and bruising. Confirmation is by identification of mutations by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3B10.1 |
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| English | Hereditary factor VIII deficiency with anti-factor VIII inhibitor |
A disease caused by a genetically inherited mutation leading to a deficiency in clotting due to lack of factor VIII. This disease also causes anti-factor VIII inhibitor antibodies to be produced when receiving transfusions. Anti-factor VIII inhibitor antibodies develop as the body recognises the factor VIII as foreign, therefore deeming factor VIII infusions ineffective. This disease is characterised by increasing haemorrhaging and bruising. Confirmation is by identification of mutations by genetic testing. |
