anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']
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. |
124 |
4. Check minimum number of eventsNone |
124 |
5. Include endpointsNone |
124 |
6. Filter based on genotype QC (FinnGen only) |
116 |
Control definitions (FinnGen only)
Control exclude
D3_APLASTICANDOTHANAEMIA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D64
Name in latin
Anaemia sideroblastica hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary sideroblastic anaemia
based on the number of shared cases.
Similar with more cases:
- Other anaemias
- Aplastic and other 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:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1481 | 806 | 652 |
| Only index persons | 986 | 576 | 410 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 74.92 | 76.56 | 72.85 |
| Only index persons | 72.92 | 75.87 | 68.78 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 116 | 55 | 61 |
| Unadjusted period prevalence (%) | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | 66.84 | 62.88 | 70.42 |
-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
No data
Mortality – FinRegistry
↥Association
Association between endpoint D3_SIDEROANAEMIAHERED and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SIDEROANAEMIAHERED | 2.507 [1.96, 3.21] | < 0.001 |
| Birth year | 0.997 [0.99, 1.01] | 0.451 |
During the follow-up period (1.1.1998 — 31.12.2019), 458 out of 704 females with D3_SIDEROANAEMIAHERED died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SIDEROANAEMIAHERED | 3.112 [2.13, 4.54] | < 0.001 |
| Birth year | 0.981 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 380 out of 549 males with D3_SIDEROANAEMIAHERED died.
Mortality risk
Mortality risk for people of age
years, who have D3_SIDEROANAEMIAHERED.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.255% | 0.493% |
| 5 | 1.629% | 2.828% |
| 10 | 3.978% | 6.662% |
| 15 | 7.385% | 12.715% |
| 20 | 12.639% | 21.601% |
Relationships between endpoints
↥Index endpoint: D3_SIDEROANAEMIAHERED – Hereditary sideroblastic anaemia
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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