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

Hereditary persistence of fetal haemoglobin [HPFH]

D3_HPFH

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 D56.4
  • Cause of death: ICD-10 D56.4

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

-

4. Check minimum number of events

None

-

5. Include endpoints

None

-

6. Filter based on genotype QC (FinnGen only)

None

-

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
Persistentia hereditaria haemoglobini fetalis

Similar endpoints

List of similar endpoints to Hereditary persistence of fetal haemoglobin [HPFH] based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

None

Venn diagram with a set fully inside an highlighted set Similar with less cases:

None

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Not enough data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 16 10 6
Only index persons 9 - 5
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 - 0.00
Median age at first event (years)
Whole population - 58.94 71.93
Only index persons 62.65 - 67.54

-FinnGen-

Key figures

All Female Male
Number of individuals - - -
Unadjusted period prevalence (%) - - -
Median age at first event (years) - - -

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls

Mortality – FinRegistry

Association

Association between endpoint D3_HPFH and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HPFH.

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_HPFH – Hereditary persistence of fetal haemoglobin [HPFH]

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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