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3A50.2 Beta thalassaemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2025-01

Beta-thalassemia (BT) is a haemoglobinopathy characterised by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of haemoglobin (Hb). Three main types of BT have been described: minor, intermedia and major with clinical presentation ranging from asymptomatic forms to microcytic anaemia and splenomegaly due to defective erythropoiesis and haemolysis.

inclusions

• Beta thalassaemia minor
• Beta thalassaemia intermedia
• Dominant beta thalassaemia
• Beta thalassaemia major

postcoordination

synonyms

• Beta thalassaemia
• Mediterranean anaemia
• beta thalassaemia syndrome
• Mediterranean disease
• beta thalassaemia disease
• Beta thalassaemia minor
• Heterozygous beta-thalassaemia
• Beta thalassaemia carrier
• Beta thalassaemia trait
• Beta thalassaemia intermedia
• Dominant beta thalassaemia
• Beta thalassaemia major
• Cooley anaemia
• familial erythroblastic anaemia
• Compound heterozygotes for beta zero or beta+ or delta-beta-thal genes
• Homozygous beta thalassaemia
• erythroblastic anaemia of childhood
• Haemoglobin E beta thalassaemia
• Hb E/beta thalassaemia
• Beta-thalassemia-X-linked thrombocytopenia syndrome

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