Haemoglobin E disease (Q39522): Difference between revisions
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Doença da hemoglobina E é caracterizada pela síntese de uma hemoglobina anormal chamada hemoglobina E (Hb E), em vez da hemoglobina A normal (Hb A). Indivíduos heterozigotos para Hb E (AE) têm uma condição assintomática sem relevância clínica, exceto pelo risco de transmitir talassemia E/beta talassemia se o outro progenitor for portador da beta talassemia. A gravidade destas formas de E/beta talassemia é muito variável, e o quadro clínico varia daquela do traço da talassemia minor até talassemia intermédia e talassemia maior. Os indivíduos homozigotos para Hb E (EE) são assintomáticos. | |||
| description / en | description / en | ||
Haemoglobin E disease is characterised by the synthesis of an abnormal haemoglobin called haemoglobin E (HbE), instead of the normal haemoglobin A (HbA). Subjects heterozygous for HbE (AE) have an asymptomatic condition with no clinical relevance, except for the risk of transmitting E/beta thalassemia if the other parent carries beta thalassemia. The severity of these E/beta thalassemia forms is very variable, the clinical picture ranging from that of beta thalassemia minor through to thalassemia intermedia to thalassemia major. Subjects homozygous for HbE (EE) are asymptomatic. | |||
Revision as of 04:58, 13 August 2026
Haemoglobin E disease is characterised by the synthesis of an abnormal haemoglobin called haemoglobin E (HbE), instead of the normal haemoglobin A (HbA). Subjects heterozygous for HbE (AE) have an asymptomatic condition with no clinical relevance, except for the risk of transmitting E/beta thalassemia if the other parent carries beta thalassemia. The severity of these E/beta thalassemia forms is very variable, the clinical picture ranging from that of beta thalassemia minor through to thalassemia intermedia to thalassemia major. Subjects homozygous for HbE (EE) are asymptomatic.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A51.A |
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| English | Haemoglobin E disease |
Haemoglobin E disease is characterised by the synthesis of an abnormal haemoglobin called haemoglobin E (HbE), instead of the normal haemoglobin A (HbA). Subjects heterozygous for HbE (AE) have an asymptomatic condition with no clinical relevance, except for the risk of transmitting E/beta thalassemia if the other parent carries beta thalassemia. The severity of these E/beta thalassemia forms is very variable, the clinical picture ranging from that of beta thalassemia minor through to thalassemia intermedia to thalassemia major. Subjects homozygous for HbE (EE) are asymptomatic. |
