Haemoglobin C disease (Q39527): Difference between revisions
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Doença causada pelo gene biparental que codifica para a hemoglobina C. Esta doença é caracterizada por estrutura anormal de uma das cadeias da globina da molécula da hemoglobina. Esta doença pode se manifestar com anemia hemolítica leve, risco aumentado de cálculos biliares, baço aumentado, episódios de dores articulares e risco aumentado de infecção. Esta doença é confirmada pela identificação do gene da hemoglobina C por testes genéticos | |||
| description / en | description / en | ||
A disease caused by the bi-parental gene that encodes for haemoglobin C. 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 C gene by genetic testing. | |||
Revision as of 04:58, 13 August 2026
A disease caused by the bi-parental gene that encodes for haemoglobin C. 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 C gene by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A51.5 |
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| English | Haemoglobin C disease |
A disease caused by the bi-parental gene that encodes for haemoglobin C. 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 C gene by genetic testing. |
