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This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Alpha thalassaemia

D3_ALPHATHALASSAEMIA

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D56.0
  • Cause of death: ICD-10 D56.0

2 out of 7 registries used, show all original rules.

35

4. Check minimum number of events

None

35

5. Include endpoints

None

35

6. Filter based on genotype QC (FinnGen only)

18

Control definitions (FinnGen only)

Control exclude D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D56
Name in latin Thalassaemia alpha

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 496 279 170
Only index persons 365 234 131
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.00
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 27.04 31.92 17.28
Only index persons 30.73 33.88 25.11

-FinnGen-

Key figures

All Female Male
Number of individuals 18 12 6
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 49.87 51.60 46.42

-FinRegistry-

Age distribution of first events

01020304050607080900102030405060708090100110120130140AgeIndividuals

-FinnGen-

Age distribution of first events

010406080900.00.51.01.52.02.53.03.54.04.55.05.56.06.57.0AgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220102030405060708090100110120YearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020102023012345678YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint D3_ALPHATHALASSAEMIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_ALPHATHALASSAEMIA.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: D3_ALPHATHALASSAEMIA – Alpha 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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