Haemoglobin E disease (Q39522): Difference between revisions

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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.
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3A51.A
    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.

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