Thalassemia: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
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. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
132 |
6. Filter based on genotype QC (FinnGen only) |
132 |
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
- Thalassaemia
Similar endpoints
↥List of similar endpoints to
Thalassaemia
based on the number of shared cases.
Similar with more cases:
- Haemolytic 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:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2202 | 1071 | 915 |
| Only index persons | 1582 | 880 | 702 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 22.71 | 25.67 | 17.00 |
| Only index persons | 28.37 | 29.61 | 26.82 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 132 | 79 | 53 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 35.73 | 32.21 | 40.98 |
-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
- 123
- Matched controls
- 1228
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D56.0
ICD-10 Finland
Alpha thalassaemia
+∞
38.6
35
*
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
32.8
30
*
D56.1
ICD-10 Finland
Beta thalassaemia
+∞
29.3
27
*
D56.99
ICD-10 Finland
Thalassaemia, unspecified
+∞
28.2
26
*
D56.91
ICD-10 Finland
Thalassemia minor
+∞
27.1
25
*
D56.2
ICD-10 Finland
Delta-beta thalassaemia
+∞
12.7
12
*
O99.0
ICD-10 Finland
Anaemia complicating pregnancy, childbirth and the puerperium
28.8
10.0
13
5
Z31.5
ICD-10 Finland
Genetic counselling
7.0
9.7
24
41
D64.9
ICD-10 Finland
Anaemia, unspecified
6.3
9.3
25
48
R5430
NOMESCO Finland
Interpreter's services
96.4
8.5
9
*
WW500
NOMESCO Finland
Blood transfusion
10.5
8.0
15
16
D01
ICPC
Abdominal pain/cramps general
4.3
7.8
30
86
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
7.1
7.6
18
29
D56
ICD-10 Finland
Thalassaemia
+∞
7.4
7
*
D56.8
ICD-10 Finland
Other thalassaemias
+∞
7.4
7
*
A02BD07
ATC
lansoprazole, amoxicillin and clarithromycin; systemic
9.5
6.7
13
15
ACC59
NOMESCO Finland
Decompression and freeing of adhesions of peripheral nerve: other or unspecified
10.9
6.7
12
12
Mortality – FinRegistry
↥Association
Association between endpoint D3_THALASSAEMIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.665 [1.07, 2.6] | 0.025 |
| Birth year | 0.996 [0.99, 1.0] | 0.362 |
During the follow-up period (1.1.1998 — 31.12.2019), 55 out of 893 females with D3_THALASSAEMIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.673 [1.12, 2.49] | 0.011 |
| Birth year | 0.989 [0.98, 1.0] | 0.034 |
During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 775 males with D3_THALASSAEMIA died.
Mortality risk
Mortality risk for people of age
years, who have D3_THALASSAEMIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.131% | 0.315% |
| 5 | 0.927% | 2.064% |
| 10 | 2.551% | 5.115% |
| 15 | 4.743% | 9.437% |
| 20 | 8.614% | 16.314% |
Relationships between endpoints
↥Index endpoint: D3_THALASSAEMIA – Thalassaemia
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
Loading data