Haemoglobin O disease (Q39528): Difference between revisions
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Doença causada pela herança biparental do gene que codifica a hemoglobina O. Essa doença é caracterizada por estrutura anormal de uma das cadeias de globina da molécula de hemoglobina. Pode apresentar-se com anemia hemolítica leve, risco aumentado de cálculos biliares, baço aumentado, episódios de dor articular e risco aumentado de infecção. Essa doença é confirmada pela identificação do gene da hemoglobina O por testagem genética. | |||
| description / en | description / en | ||
A disease caused by the bi-parental inheritance of the gene that encodes for haemoglobin O. This disease is characterised by abnormal structure of one of the globin chains of the haemoglobin molecule. This disease may present with mild haemolytic anaemia, increased risk for gallstones, enlarged spleen, episodes of joint pain, and increased risk of infection. This disease is confirmed by identification of the haemoglobin O gene by genetic testing. | |||
Revision as of 04:58, 13 August 2026
A disease caused by the bi-parental inheritance of the gene that encodes for haemoglobin O. This disease is characterised by abnormal structure of one of the globin chains of the haemoglobin molecule. This disease may present with mild haemolytic anaemia, increased risk for gallstones, enlarged spleen, episodes of joint pain, and increased risk of infection. This disease is confirmed by identification of the haemoglobin O gene by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A51.9 |
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| English | Haemoglobin O disease |
A disease caused by the bi-parental inheritance of the gene that encodes for haemoglobin O. This disease is characterised by abnormal structure of one of the globin chains of the haemoglobin molecule. This disease may present with mild haemolytic anaemia, increased risk for gallstones, enlarged spleen, episodes of joint pain, and increased risk of infection. This disease is confirmed by identification of the haemoglobin O gene by genetic testing. |
