Other hereditary haemolytic anaemias

D3_HEREDHAEMOLYTICANAEMIAOTHER

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 D58
  • Cause of death: ICD-10 D58

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

166

4. Check minimum number of events

None

166

5. Include endpoints

217

6. Filter based on genotype QC (FinnGen only)

217

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
Aliae anaemiae haemolyticae hereditariae

Similar endpoints

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 2471 1228 1174
Only index persons 1959 1005 954
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.03
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 24.85 27.81 21.09
Only index persons 25.64 27.68 23.49

-FinnGen-

Key figures

All Female Male
Number of individuals 217 127 90
Unadjusted period prevalence (%) 0.04 0.04 0.04
Median age at first event (years) 38.10 34.83 42.72

-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

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.

Matched cohort

Matched cases
190
Matched controls
1899
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D58.0
ICD-10 Finland
Hereditary spherocytosis
+∞
64.3
58
*
D58.2
ICD-10 Finland
Other haemoglobinopathies
+∞
63.1
57
*
28200
ICD-8 Finland
Hereditary haemolytic anaemias, Familial acholuric jaundice
+∞
31.1
29
*
D58.9
ICD-10 Finland
Hereditary haemolytic anaemia, unspecified
+∞
19.1
18
*
2820A
ICD-9 Finland
Hereditary haemolytic anaemias, Hereditary spherocytosis
+∞
16.9
16
*
D64.9
ICD-10 Finland
Anaemia, unspecified
6.2
11.7
32
60
D58.1
ICD-10 Finland
Hereditary elliptocytosis
+∞
11.6
11
*
D58.8
ICD-10 Finland
Other specified hereditary haemolytic anaemias
+∞
11.6
11
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
5.5
11.3
34
72
JMA11
NOMESCO Finland
Laparoscopic total splenectomy
+∞
10.5
10
*
28299
ICD-8 Finland
Hereditary haemolytic anaemias, Other
+∞
8.4
8
*
D59.9
ICD-10 Finland
Acquired haemolytic anaemia, unspecified
+∞
7.3
7
*
JMA10
NOMESCO Finland
Transabdominal total splenectomy
31.3
7.2
9
*
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
3.7
6.9
30
92
D75.1
ICD-10 Finland
Secondary polycythaemia
41.6
6.8
8
*
WW500
NOMESCO Finland
Blood transfusion
6.4
6.5
16
27

Mortality – FinRegistry

Association

Association between endpoint D3_HEREDHAEMOLYTICANAEMIAOTHER and mortality.

Females

Parameter HR [95% CI] p-value
D3_HEREDHAEMOLYTICANAEMIAOTHER 2.308 [1.7, 3.13] < 0.001
Birth year 0.997 [0.99, 1.01] 0.442

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 731 females with D3_HEREDHAEMOLYTICANAEMIAOTHER died.

Males

Parameter HR [95% CI] p-value
D3_HEREDHAEMOLYTICANAEMIAOTHER 2.124 [1.51, 2.99] < 0.001
Birth year 0.985 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 684 males with D3_HEREDHAEMOLYTICANAEMIAOTHER died.

Mortality risk

Mortality risk for people of age

years, who have D3_HEREDHAEMOLYTICANAEMIAOTHER.

N-year risk Females Males
1 0.155% 0.381%
5 1.246% 2.119%
10 3.404% 5.639%
15 6.755% 10.52%
20 11.738% 17.51%

Relationships between endpoints

Index endpoint: D3_HEREDHAEMOLYTICANAEMIAOTHER – Other hereditary haemolytic anaemias

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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