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Other haemoglobinopathies

D3_OTHHAEMOGLOPAT

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 D58.2
  • Hospital discharge: ICD-8 28250
  • Cause of death: ICD-10 D58.2
  • Cause of death: ICD-8 28250

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

58

4. Check minimum number of events

None

58

5. Include endpoints

None

58

6. Filter based on genotype QC (FinnGen only)

48

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 D58
Name in latin Aliae haemoglobinopathiae

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 673 321 297
Only index persons 544 283 261
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 42.81 40.44 46.93
Only index persons 45.77 43.01 48.75

-FinnGen-

Key figures

All Female Male
Number of individuals 48 19 29
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 59.20 53.39 63.00

-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_OTHHAEMOGLOPAT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_OTHHAEMOGLOPAT.

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_OTHHAEMOGLOPAT – Other haemoglobinopathies

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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