This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Thalassaemia
D3_THALASSAEMIA
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.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
123 |
6. Filter based on genotype QC (FinnGen only) |
48 |
Control definitions (FinnGen only)
Control exclude
D3_HAEMOLYTICANAEMIA
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D55-D59
Name in latin
Thalassaemia
Similar endpoints
↥List of similar endpoints to
Thalassaemia
based on the number of shared cases.
Similar with more cases:
- Haemolytic anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2202 | 1071 | 915 |
| Only index persons | 1582 | 880 | 702 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 22.71 | 25.67 | 17.00 |
| Only index persons | 28.37 | 29.61 | 26.82 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 48 | 25 | 23 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 50.94 | 52.29 | 49.48 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Association
Association between endpoint D3_THALASSAEMIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.665 [1.07, 2.6] | 0.025 |
| Birth year | 0.996 [0.99, 1.0] | 0.362 |
During the follow-up period (1.1.1998 — 31.12.2019), 55 out of 893 females with D3_THALASSAEMIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.673 [1.12, 2.49] | 0.011 |
| Birth year | 0.989 [0.98, 1.0] | 0.034 |
During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 775 males with D3_THALASSAEMIA died.
Mortality risk
Mortality risk for people of age
years, who have D3_THALASSAEMIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.131% | 0.315% |
| 5 | 0.927% | 2.064% |
| 10 | 2.551% | 5.115% |
| 15 | 4.743% | 9.437% |
| 20 | 8.614% | 16.314% |
Relationships between endpoints
↥Index endpoint: D3_THALASSAEMIA – Thalassaemia
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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