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
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
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 |
143 |
6. Filter based on genotype QC (FinnGen only) |
53 |
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 | 53 | 27 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 51.80 | 52.29 | 51.29 |
-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
↥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
- 143
- Matched controls
- 1430
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D56.0
ICD-10 Finland
Alpha thalassaemia
+∞
50.0
45
*
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
40.6
37
*
D56.99
ICD-10 Finland
Thalassaemia, unspecified
+∞
36.0
33
*
D56.1
ICD-10 Finland
Beta thalassaemia
+∞
31.4
29
*
D56.91
ICD-10 Finland
Thalassemia minor
+∞
29.2
27
*
Z31.5
ICD-10 Finland
Genetic counselling
8.5
22.3
33
49
D64.9
ICD-10 Finland
Anaemia, unspecified
6.6
16.0
29
53
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
7.0
13.4
22
36
D56.2
ICD-10 Finland
Delta-beta thalassaemia
+∞
12.7
12
*
D56
ICD-10 Finland
Thalassaemia
+∞
11.6
11
*
O99.0
ICD-10 Finland
Anaemia complicating pregnancy, childbirth and the puerperium
22.3
11.4
16
8
R5430
NOMESCO Finland
Interpreter's services
59.1
9.8
11
*
D01
ICPC
Abdominal pain/cramps general
3.7
9.5
36
119
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
95.4
8.5
9
*
D50.8
ICD-10 Finland
Other iron deficiency anaemias
35.6
8.2
10
*
D56.8
ICD-10 Finland
Other thalassaemias
+∞
7.3
7
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
4.0
6.6
20
56
A02BD07
ATC
lansoprazole, amoxicillin and clarithromycin; systemic
6.8
6.4
15
24
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
3.4
6.2
25
85
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
59
160
5.58
21.85
2.5
2.2
15.19
14.45
umol/l
0.20
51
150
53
131
5.84
21.79
2.8
2.4
26.30
24.86
%
0.19
47
117
77
265
5.13
21.33
2.7
1.9
3.69
2.81
mg/l
2.06
64
225
55
144
5.58
21.12
2.6
2.3
2.35
2.43
g/l
0.38
49
132
107
559
4.63
15.47
8.4
2.6
121.85
85.11
ug/l
1.52
101
519
25
47
6.23
13.31
5.6
5.5
92.68
91.04
%
0.14
25
47
77
357
3.51
12.44
1.9
1.8
99.97
95.59
pmol/l
0.37
44
186
21
49
4.85
8.74
1.6
1.9
—
—
—
0
0
41
156
3.28
8.67
1.9
1.6
1024.71
1163.39
nmol/l
0.36
28
121
86
530
2.56
6.94
11.5
6.7
14.68
12.21
umol/l
0.57
80
506
99
676
2.51
6.06
17.8
9.4
4.13
4.16
e9/l
0.05
82
597
55
294
2.41
5.81
4.1
3.3
0.38
0.41
e6/l
0.04
37
224
71
426
2.32
5.75
11.3
8.4
1.21
1.22
mmol/l
0.29
66
398
75
466
2.28
5.53
12.2
8.4
1.22
1.22
mmol/l
0.02
64
398
49
257
2.38
5.34
8.3
2.4
—
—
—
0
0
13
24
5.85
5.05
3.2
2.5
—
—
—
0
0
61
362
2.19
4.89
4.2
3.4
—
—
—
0
0
108
807
2.38
4.81
11.2
7.1
86.71
79.84
u/l
0.57
102
757
36
173
2.44
4.70
3.6
3.2
1.42
0.88
e6/l
0.33
17
100
34
166
2.38
4.26
3.7
3.3
1.71
3.00
e6/l
0.77
14
94
22
88
2.77
4.12
1.3
1.4
—
—
—
0
0
22
88
2.77
4.12
1.3
1.4
—
—
—
0
0
22
88
2.77
4.12
1.3
1.4
—
—
—
0
0
22
88
2.77
4.12
1.3
1.4
—
—
—
0
0
26
114
2.57
4.08
2.7
1.7
—
—
—
0
0
14
38
3.97
3.92
1.3
2.0
—
—
—
0
0
20
78
2.82
3.92
20.6
11.5
25.63
25.00
mmol/l
0.30
20
78
62
396
2.00
3.90
9.5
6.0
35.90
36.23
g/l
0.14
55
378
39
210
2.18
3.86
1.3
1.5
20.29
20.87
nmol/l
0.08
33
176
67
441
1.98
3.86
3.0
2.5
63.80
72.97
nmol/l
1.58
62
393
34
173
2.27
3.86
2.7
1.9
—
—
—
0
0
26
118
2.47
3.79
2.8
1.7
—
—
—
0
0
8
12
6.99
3.72
1.6
6.3
115.50
96.50
%
—
8
12
42
236
2.10
3.72
5.5
2.4
1.17
1.17
mg/l
0.00
27
175
8
13
6.44
3.55
2.3
1.5
—
—
—
0
0
84
612
1.90
3.45
7.4
5.6
6.45
6.29
mmol/l
0.33
74
548
23
103
2.47
3.45
9.1
9.5
105.00
104.33
mmol/l
0.31
23
103
6
7
8.88
3.29
2.2
1.1
—
—
—
0
0
15
55
2.93
3.27
1.5
1.4
—
—
—
0
0
13
41
3.38
3.15
1.8
1.6
0.11
0.01
iu/ml
—
6
9
21
95
2.42
3.08
1.4
1.6
—
—
—
0
0
7
12
6.07
3.06
1.3
1.0
—
—
—
0
0
5
5
10.29
3.00
5.4
4.6
—
—
—
0
0
5
5
10.29
3.00
5.4
4.6
—
—
—
0
0
132
1159
2.81
2.91
21.2
12.3
19.79
21.61
mg/l
0.30
114
890
7
13
5.60
2.90
3.4
1.8
—
—
—
0
0
7
13
5.60
2.90
3.4
1.8
—
—
—
0
0
5
6
8.57
2.77
1.2
1.0
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
5
6
8.57
2.77
1.2
2.8
130.40
121.83
%
—
5
6
118
997
2.05
2.74
17.8
10.7
99.53
92.37
ml/min/173m2
2.07
99
774
8
19
4.39
2.72
2.3
1.4
—
—
—
0
0
11
35
3.32
2.71
1.2
1.6
—
—
—
0
0
107
881
1.85
2.61
4.8
3.9
14.61
14.60
pmol/l
0.02
100
811
8
20
4.17
2.61
3.1
1.7
—
—
—
0
0
8
20
4.17
2.61
3.1
1.7
—
—
—
0
0
10
31
3.39
2.57
3.0
1.5
—
—
—
0
0
100
809
1.79
2.56
4.6
3.9
11.40
9.47
mm/h
0.77
93
747
12
46
2.76
2.43
5.8
5.4
128.42
125.72
g/l
0.19
12
46
10
33
3.18
2.41
2.7
1.6
—
—
—
0
0
72
539
1.68
2.39
7.1
2.7
—
—
—
0
0
7
18
4.03
2.28
3.1
1.7
—
—
—
0
0
5
9
5.71
2.23
4.2
3.0
—
—
—
0
0
34
210
1.81
2.21
3.6
3.4
574.36
1277.46
ng/l
1.15
28
176
11
42
2.75
2.20
3.5
1.3
—
—
—
0
0
36
227
1.78
2.19
5.2
3.7
32.72
17.15
mg/mmol
0.33
26
150
10
36
2.91
2.18
6.3
5.4
0.58
0.68
%
—
10
36
6
14
4.42
2.17
2.5
1.4
—
—
—
0
0
10
37
2.83
2.11
6.3
5.3
1.27
1.56
%
—
10
37
51
358
1.66
2.11
1.5
1.8
—
—
—
0
0
7
21
3.45
1.99
2.9
1.6
—
—
—
0
0
8
27
3.08
1.97
2.8
1.6
—
—
—
0
0
119
1050
1.79
1.85
5.6
4.5
1.83
1.85
mu/l
0.08
112
979
17
89
2.03
1.79
1.8
1.8
—
—
—
0
0
25
152
1.78
1.71
4.0
2.8
2.46
2.44
mmol/l
0.18
20
131
7
25
2.89
1.67
4.4
2.2
—
—
—
0
0
5
15
3.41
1.53
7.2
1.4
—
—
—
0
0
53
402
1.51
1.51
21.7
9.9
1.25
1.20
inr
0.13
14
126
44
321
1.54
1.49
4.6
3.1
2.35
2.36
mmol/l
0.15
37
284
31
208
1.63
1.49
1.4
1.3
14.89
31.54
iu/ml
—
9
60
35
243
1.58
1.47
3.6
2.9
344.93
4841.15
umol/l
1.03
29
219
6
22
2.80
1.45
2.0
1.5
—
—
—
0
0
6
22
2.80
1.45
2.0
1.5
—
—
—
0
0
14
74
1.99
1.45
1.4
1.4
247.44
283.42
miu/ml
—
8
37
6
24
2.56
1.32
1.0
1.1
—
—
—
0
0
12
64
1.96
1.22
1.8
1.6
—
—
—
0
0
6
26
2.36
1.20
1.2
1.1
—
2.72
—
0
13
25
169
1.58
1.17
1.4
1.5
—
—
—
0
0
8
39
2.11
1.17
1.5
2.4
—
—
—
0
0
7
136
0.49
1.17
2.0
1.5
—
—
—
0
0
7
30
2.40
1.14
1.3
1.3
—
—
—
0
0
9
45
2.07
1.07
1.1
1.4
—
—
—
0
0
11
61
1.87
1.01
2.5
1.3
11.64
18.65
iu/l
0.42
11
53
9
51
1.82
0.96
2.0
1.3
—
—
—
0
0
15
94
1.67
0.95
7.7
6.9
—
—
—
0
0
41
322
1.38
0.93
4.4
3.5
42.02
37.87
ng/l
0.08
28
181
8
42
1.96
0.90
1.1
1.1
—
15.06
—
0
7
13
80
1.69
0.88
1.3
1.0
—
—
—
0
0
96
1049
0.74
0.87
3.9
3.5
1.36
1.44
mmol/l
1.00
88
978
8
45
1.82
0.86
1.1
1.2
—
—
—
0
0
24
175
1.45
0.81
3.5
3.1
44.81
269.88
ng/l
1.08
15
112
138
1332
2.03
0.81
34.2
17.3
5.04
4.56
e12/l
8.42
132
1304
138
1330
2.07
0.81
34.2
17.4
255.70
257.49
e9/l
0.10
132
1299
24
176
1.44
0.79
2.2
1.7
449.00
449.37
pmol/l
0.00
16
158
0
26
0.00
0.79
0.0
2.1
—
—
—
0
0
5
24
2.12
0.75
1.0
1.1
—
—
—
0
0
5
26
1.96
0.71
1.0
1.3
—
—
—
0
0
98
1055
0.77
0.68
3.9
3.5
4.45
4.62
mmol/l
1.00
90
986
16
112
1.48
0.67
1.5
1.4
—
—
—
0
0
92
997
0.78
0.66
3.6
3.3
1.26
1.25
mmol/l
0.05
84
925
7
44
1.62
0.66
2.1
2.3
—
—
—
0
0
99
1063
0.78
0.66
4.2
3.8
2.62
2.77
mmol/l
0.97
92
988
6
35
1.74
0.58
2.8
1.1
—
—
—
0
0
15
107
1.45
0.58
4.1
3.3
—
—
—
0
0
6
37
1.65
0.56
1.7
1.1
—
—
—
0
0
87
798
1.23
0.54
5.7
3.3
40.76
41.18
u/l
0.02
82
764
6
39
1.56
0.53
1.7
1.1
—
—
—
0
0
11
156
0.68
0.53
2.0
1.8
—
—
—
0
0
65
580
1.22
0.53
6.0
5.0
0.00
0.00
estimate
-0.00
12
127
24
192
1.30
0.49
1.3
1.3
2.42
5.39
u/ml
—
9
77
7
47
1.51
0.48
2.3
2.3
—
—
—
0
0
65
589
1.19
0.43
4.0
3.6
0.00
0.00
estimate
—
10
121
0
15
0.00
0.41
0.0
1.4
—
13.23
—
0
15
0
15
0.00
0.41
0.0
2.1
—
15.65
—
0
15
106
1012
1.18
0.34
4.0
3.5
5.87
5.68
mmol/l
0.45
99
925
63
582
1.15
0.31
4.0
3.5
0.00
0.00
estimate
-0.00
12
129
11
85
1.32
0.29
3.6
1.3
142.55
420.76
u/ml
0.49
11
78
104
998
1.15
0.28
4.1
3.8
—
—
—
0
0
5
72
0.68
0.27
1.4
2.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
136.92
—
0
11
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
4.7
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
32
290
1.13
0.20
2.0
2.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
40
433
0.89
0.20
4.1
3.5
—
—
—
0
0
89
921
0.91
0.17
5.9
4.4
38.49
38.03
mmol/mol
0.14
81
869
28
304
0.90
0.14
4.0
3.6
0.00
0.01
estimate
0.50
12
123
34
319
1.09
0.12
2.2
2.4
—
—
—
0
0
11
96
1.16
0.10
1.6
1.3
—
—
—
0
0
21
223
0.93
0.06
1.8
1.4
—
—
—
0
0
19
193
0.98
0.00
1.9
1.9
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
42.83
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
243.71
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.1
—
41.86
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
16.25
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
79
1.01
-0.00
1.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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