" /> Haemoglobin E disease - CISMeF





ICD-11 code : 3A51.A;

Preferred Label : Haemoglobin E disease;

ICD-11 definition : Hemoglobin E disease is characterised by the synthesis of an abnormal hemoglobin called hemoglobin E (HbE), instead of the normal hemoglobin 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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Hemoglobin E disease is characterised by the synthesis of an abnormal hemoglobin called hemoglobin E (HbE), instead of the normal hemoglobin 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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06/05/2025


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