3A50

ICD-11 MMS 2026-01

Thalassaemias

Description

A disease caused by genetically inherited autosomal recessive mutations leading to abnormal production of haemoglobin. This disease is characterised by destruction of red blood cells leading to anaemia and abnormal production of haemoglobin. This disease may present with pallor, jaundice, iron overload, fatigue, or shortness of breath. Confirmation is by identification of mutations through genetic testing.

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

Child codes

  • 3A50.0 – Alpha thalassaemia
  • 3A50.1 – Alpha thalassaemia related syndromes
  • 3A50.2 – Beta thalassaemia
  • 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

Sibling codes

  • 3A51 – Sickle cell disorders or other haemoglobinopathies
  • 3A70 – Aplastic anaemia
  • 3A71 – Anaemia due to chronic disease
  • 3A72 – Sideroblastic anaemia
  • 3A73 – Congenital dyserythropoietic anaemia
  • 3A90 – Anaemia due to acute disease
  • 3A91 – Congenital methaemoglobinaemia
  • 3A92 – Hereditary methaemoglobinaemia
  • 3A93 – Acquired methaemoglobinaemia
  • 3A94 – Acute posthaemorrhagic anaemia
  • 3A9Y – Other specified anaemias or erythrocyte disorders
  • 3A9Z – Anaemias or other erythrocyte disorders, unspecified

Foundation entity

Thalassaemias – http://id.who.int/icd/entity/330259189

Allowed postcoordination axes

Part of: 03: Diseases of the blood or blood-forming organs