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 19 9 10
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 47.45 43.69 50.83
Case fatality at 5-years (%) 0.0 0.0 0.0

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 1 1 1
Recurrence at 6 months (%) 5.26 11.11 -

Associations

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