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3A51.A Haemoglobin E disease

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Haemoglobin E disease
• Homozygous HbE carriers
• Compound HbE or other Hb mutant heterozygotes

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