Thalassaemia

Description

Thalassemia: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

Data source
FinnGen phenocode D3_THALASSAEMIA
Hospital Discharge registry ICD-10: D56
Cause of Death registry ICD-10: D56
Include D3_ALPHATHALASSAEMIA, D3_BETATHALASSAEMIA, D3_DELTABETATHALASSAEMIA, D3_THALASSAEMIATRAIT, D3_HPFH, D3_THALASSAEMIANAS
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 10241
GWAS catalog 1001996
MESH D013789
SNOMED CT 40108008

Key figures

Sex All Female Male
Number of individuals 16 7 9
Unadjusted prevalence (%) 0.01 0.01 0.02
Mean age at first event (years) 49.41 48.89 49.81
Median number of events / individual 1 1 1

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 6.25 14.29 N/A
Case fatality at 5-years (%) 0.0 0.0 0.0

Associations