anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
139 |
4. Check minimum number of eventsNone |
139 |
5. Include endpointsNone |
139 |
6. Filter based on genotype QC (FinnGen only) |
139 |
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
Similar endpoints
↥List of similar endpoints to
Hereditary sideroblastic anaemia
based on the number of shared cases.
Similar with more cases:
- Other anaemias
- Aplastic and other anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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 | 139 | 67 | 72 |
| Unadjusted period prevalence (%) | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | 67.55 | 64.71 | 70.20 |
-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
- 124
- Matched controls
- 1240
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.0
ICD-10 Finland
Hereditary sideroblastic anaemia
+∞
170.5
121
*
D64.9
ICD-10 Finland
Anaemia, unspecified
77.2
66.7
74
23
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
16.6
26.8
45
41
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.8
18.2
68
213
UJF92
NOMESCO Finland
Capsular endoscopy
156.3
13.7
14
*
UJF32
NOMESCO Finland
Coloscopy
4.5
12.8
57
197
D64.8
ICD-10 Finland
Other specified anaemias
+∞
12.7
12
*
WW500
NOMESCO Finland
Blood transfusion
17.0
12.3
19
13
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
13.0
11.0
19
17
XW000
NOMESCO Finland
Bone marrow biopsy
15.1
10.0
16
12
ZX120
NOMESCO Finland
Intravenous
5.7
9.5
28
60
D50.8
ICD-10 Finland
Other iron deficiency anaemias
29.9
8.6
11
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.3
8.0
31
89
D46.0
ICD-10 Finland
Refractory anaemia without ring sideroblasts, so stated
+∞
7.4
7
*
UJD02
NOMESCO Finland
Gastroscopy
6.6
7.2
18
31
K44.9
ICD-10 Finland
Diaphragmatic hernia without obstruction or gangrene
4.9
7.1
23
55
C03CA01
ATC
furosemide; systemic
2.8
6.9
68
379
D46.9
ICD-10 Finland
Myelodysplastic syndrome, unspecified
42.4
6.8
8
*
D62
ICD-10 Finland
Acute posthaemorrhagic anaemia
73.4
6.5
7
*
TPH04
NOMESCO Finland
Cathetrisation of vein
3.2
6.4
38
152
V03AC03
ATC
deferasirox; oral
+∞
6.3
6
*
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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