Hereditary factor IX deficiency (Q39576): Difference between revisions
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Doença causada por um traço recessivo ligado ao X geneticamente herdado, que leva a um gene defeituoso localizado no cromossomo X. Essa doença é caracterizada por níveis baixos da proteína fator IX no organismo, levando a um aumento na ocorrência de hemorragias e equimoses devido a anormalidades na coagulação. A confirmação é feita pela identificação do traço recessivo por testagem genética. | |||
| description / en | description / en | ||
A disease caused by a genetically inherited X-linked recessive trait leading to a defective gene located on the X chromosome. This disease is characterised by low levels of the protein factor IX in the body leading to increased haemorrhaging and bruising due to clotting abnormalities. Confirmation is by identification of recessive trait by genetic testing. | |||
Revision as of 05:03, 13 August 2026
A disease caused by a genetically inherited X-linked recessive trait leading to a defective gene located on the X chromosome. This disease is characterised by low levels of the protein factor IX in the body leading to increased haemorrhaging and bruising due to clotting abnormalities. Confirmation is by identification of recessive trait by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3B11 |
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| English | Hereditary factor IX deficiency |
A disease caused by a genetically inherited X-linked recessive trait leading to a defective gene located on the X chromosome. This disease is characterised by low levels of the protein factor IX in the body leading to increased haemorrhaging and bruising due to clotting abnormalities. Confirmation is by identification of recessive trait by genetic testing. |
