3A50.2

ICD-11 MMS 2026-01

Beta thalassaemia

Description

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.

Index terms

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

Inclusions

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

Exclusions from above levels

  • 04 – Diseases of the immune system
  • 05 – Endocrine, nutritional or metabolic diseases
  • 18 – Complications of pregnancy, childbirth or the puerperium
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  • 19 – Certain conditions originating in the perinatal period
  • 20 – Congenital malformations, deformations or chromosomal abnormalities
  • 22 – Injury, poisoning or certain other consequences of external causes
  • http://id.who.int/icd/entity/1000704511 – Human immunodeficiency virus disease
  • JB64.1 – Other diseases of the blood or blood-forming organs or certain disorders involving the immune mechanism complicating pregnancy, childbirth or the puerperium

Sibling codes

  • 3A50.0 – Alpha thalassaemia
  • 3A50.1 – Alpha thalassaemia related syndromes
  • 3A50.3 – Delta, delta-beta or gamma-delta-beta thalassaemia
  • 3A50.4 – Hereditary persistence of fetal haemoglobin
  • 3A50.Y – Other specified thalassaemias
  • 3A50.Z – Thalassaemias, unspecified

Foundation entity

Beta thalassaemia – http://id.who.int/icd/entity/2063292324

Allowed postcoordination axes

Part of: 3A50: Thalassaemias › 03: Diseases of the blood or blood-forming organs