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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.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

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

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

-

4. Check minimum number of events

None

-

5. Include endpoints

115

6. Filter based on genotype QC (FinnGen only)

46

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

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 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 46 24 22
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 49.86 52.45 47.03

-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

Relationships between endpoints

Index endpoint: D3_THALASSAEMIA – Thalassaemia

GWS hits: -

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