Hereditary sideroblastic anaemia

D3_SIDEROANAEMIAHERED

anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']

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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 D64.0
  • Hospital discharge: ICD-9 2850A
  • Cause of death: ICD-10 D64.0
  • Cause of death: ICD-9 2850A

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

124

4. Check minimum number of events

None

124

5. Include endpoints

None

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

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 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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