Sickle-cell disorders

D3_SICKLECELLDIS

obsolete_sickle cell disease: ['A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.']

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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 D57
  • Hospital discharge: ICD-9 282[5-6]
  • Cause of death: ICD-10 D57
  • Cause of death: ICD-9 282[5-6]

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

77

4. Check minimum number of events

None

77

5. Include endpoints

None

77

6. Filter based on genotype QC (FinnGen only)

63

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 Morbi meniscocytici

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 754 385 332
Only index persons 575 317 258
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 52.37 54.03 52.53
Only index persons 56.62 57.36 55.71

-FinnGen-

Key figures

All Female Male
Number of individuals 63 33 30
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 60.12 60.19 60.04

-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_SICKLECELLDIS and mortality.

Females

Parameter HR [95% CI] p-value
D3_SICKLECELLDIS 1.674 [1.26, 2.22] < 0.001
Birth year 0.99 [0.98, 1.0] 0.031

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 347 females with D3_SICKLECELLDIS died.

Males

Parameter HR [95% CI] p-value
D3_SICKLECELLDIS 2.204 [1.57, 3.09] < 0.001
Birth year 0.988 [0.98, 1.0] 0.011

During the follow-up period (1.1.1998 — 31.12.2019), 96 out of 302 males with D3_SICKLECELLDIS died.

Mortality risk

Mortality risk for people of age

years, who have D3_SICKLECELLDIS.

N-year risk Females Males
1 0.132% 0.379%
5 0.85% 2.853%
10 2.005% 6.648%
15 3.874% 12.489%
20 6.564% 20.377%

Relationships between endpoints

Index endpoint: D3_SICKLECELLDIS – Sickle-cell disorders

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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