Catalog
Thalassaemias
Link to WHO Definition
Thalassaemias – http://id.who.int/icd/entity/330259189
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.
Parents
Children
- Thalassaemia anaemia
- Mixed thalassaemia
- Beta thalassaemia associated with other haemoglobin anomaly
- 3A50.2 Beta thalassaemia
- Rietti-Greppi-Micheli anaemia
- Thalassaemia minor
- Microelliptopoikilocytic anaemia
- 3A50.4 Hereditary persistence of fetal haemoglobin
- 3A50.3 Delta, delta-beta or gamma-delta-beta thalassaemia
- 3A50.0 Alpha thalassaemia
- 3A50.1 Alpha thalassaemia related syndromes
- Sickle cell-thalassemia disease
- Familial microcytic anaemia