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
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
58
146
6.30
23.85
2.6
2.3
15.1
14.5
umol/l
0.13
51
136
52
121
6.44
23.17
2.8
2.4
26.0
24.8
%
0.15
47
108
54
134
6.13
22.38
2.6
2.3
2.4
2.4
g/l
0.37
49
124
70
237
5.16
19.85
2.8
2.0
3.9
2.8
mg/l
2.72
57
201
25
42
7.11
14.94
5.6
5.9
92.7
90.5
%
0.19
25
42
98
506
4.64
14.51
9.0
2.6
125.8
86.5
ug/l
1.51
93
470
72
330
3.60
12.00
1.9
1.8
97.5
95.9
pmol/l
0.11
41
167
19
45
4.76
7.77
1.6
2.0
—
—
—
0
0
38
148
3.20
7.73
1.9
1.6
996.8
1147.8
nmol/l
0.40
27
117
13
23
6.16
7.22
3.2
2.6
—
—
—
0
0
80
489
2.61
6.69
12.2
6.8
13.4
11.4
umol/l
0.52
74
467
49
237
2.70
6.62
8.3
2.4
—
—
—
0
0
71
425
2.45
6.00
12.5
8.4
1.2
1.2
mmol/l
0.13
61
361
52
272
2.50
5.87
4.3
3.4
0.4
0.4
e6/l
0.08
37
210
92
626
2.55
5.78
19.0
9.6
4.1
4.2
e9/l
0.05
79
555
14
36
4.23
5.13
1.3
2.1
—
—
—
0
0
61
360
2.29
5.11
9.6
6.1
35.7
36.1
g/l
0.19
54
342
57
335
2.23
4.75
4.5
3.4
—
—
—
0
0
38
191
2.39
4.53
1.3
1.5
19.3
20.1
nmol/l
0.11
33
163
42
221
2.32
4.52
5.5
2.4
1.2
1.2
mg/l
0.03
27
165
100
748
2.39
4.48
11.9
7.1
88.3
79.6
u/l
0.72
94
701
21
79
2.97
4.41
1.3
1.4
—
—
—
0
0
21
79
2.97
4.41
1.3
1.4
—
—
—
0
0
21
79
2.97
4.41
1.3
1.4
—
—
—
0
0
21
79
2.97
4.41
1.3
1.4
—
—
—
0
0
25
104
2.73
4.38
2.6
1.7
—
—
—
0
0
13
36
3.90
4.32
1.8
1.6
0.1
0.0
iu/ml
—
6
8
33
160
2.42
4.24
3.8
3.3
1.4
0.9
e6/l
0.32
17
94
19
69
3.05
4.23
21.2
10.5
25.7
25.1
mmol/l
0.27
19
69
23
95
2.72
4.08
9.1
9.7
105.0
104.1
mmol/l
0.43
23
90
25
109
2.60
3.99
2.8
1.7
—
—
—
0
0
32
158
2.35
3.93
2.7
1.9
—
—
—
0
0
8
11
7.66
3.92
1.6
6.7
115.5
99.1
%
—
8
11
79
556
2.05
3.88
7.6
5.7
6.5
6.3
mmol/l
0.22
70
504
31
154
2.32
3.75
3.9
3.3
1.7
3.0
e6/l
0.71
14
88
8
13
6.47
3.56
2.3
1.5
—
—
—
0
0
6
6
10.39
3.53
2.2
1.0
—
—
—
0
0
20
85
2.59
3.35
1.5
1.5
—
—
—
0
0
11
34
3.44
3.13
1.2
1.6
—
—
—
0
0
14
51
2.95
3.09
1.5
1.3
—
—
—
0
0
7
12
6.09
3.06
1.3
1.0
—
—
—
0
0
5
5
10.32
3.00
5.4
4.6
—
—
—
0
0
5
5
10.32
3.00
5.4
4.6
—
—
—
0
0
15
58
2.79
2.99
23.1
9.7
24.6
24.6
mmol/l
0.02
15
53
10
30
3.52
2.97
3.0
1.6
—
—
—
0
0
5
6
8.60
2.77
1.2
1.0
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
5
6
8.60
2.77
1.2
2.8
130.4
121.8
%
—
5
6
8
19
4.41
2.72
2.3
1.4
—
—
—
0
0
10
32
3.30
2.71
2.7
1.6
—
—
—
0
0
68
497
1.76
2.60
8.4
4.4
—
—
—
0
0
93
749
1.82
2.50
4.8
4.0
11.7
9.5
mm/h
0.84
86
694
109
925
2.02
2.46
18.5
10.5
99.6
92.3
ml/min/173m2
2.05
95
713
99
815
1.86
2.45
4.9
3.9
14.5
14.6
pmol/l
0.13
92
750
121
1070
2.57
2.44
22.3
12.3
20.3
22.0
mg/l
0.25
104
819
7
17
4.29
2.39
3.1
1.8
—
—
—
0
0
6
13
4.78
2.30
2.5
1.4
—
—
—
0
0
32
193
1.87
2.27
3.7
3.4
592.0
1193.7
ng/l
0.84
26
163
11
42
2.77
2.25
6.3
5.7
127.5
124.0
g/l
0.24
11
42
11
42
2.77
2.25
3.5
1.3
—
—
—
0
0
5
9
5.72
2.23
4.2
3.0
—
—
—
0
0
7
20
3.63
2.08
2.9
1.6
—
—
—
0
0
8
26
3.21
2.05
2.8
1.6
—
—
—
0
0
47
327
1.68
2.04
1.5
1.8
—
—
—
0
0
33
210
1.76
1.96
5.4
3.7
35.4
18.2
mg/mmol
0.34
24
138
110
967
1.83
1.81
5.7
4.4
1.8
1.8
mu/l
0.07
103
899
9
36
2.61
1.77
6.9
5.4
1.3
1.6
%
—
9
36
7
24
3.02
1.75
4.4
2.3
—
—
—
0
0
5
13
3.95
1.73
7.2
1.5
—
—
—
0
0
34
226
1.68
1.72
3.6
3.0
344.9
5145.6
umol/l
1.03
29
205
23
138
1.81
1.65
4.0
2.9
2.5
2.4
mmol/l
0.21
18
118
12
59
2.14
1.49
1.8
1.6
—
—
—
0
0
7
28
2.58
1.47
1.3
1.3
—
—
—
0
0
6
22
2.81
1.45
1.0
1.1
—
—
—
0
0
15
82
1.94
1.42
1.8
1.9
—
—
—
0
0
41
299
1.54
1.41
4.7
3.1
2.3
2.4
mmol/l
0.25
33
261
13
69
1.98
1.34
1.3
1.0
—
—
—
0
0
9
43
2.17
1.33
1.1
1.4
—
—
—
0
0
29
198
1.60
1.32
1.4
1.3
14.9
29.9
iu/ml
—
9
56
115
1050
1.74
1.31
32.3
12.8
37.7
40.5
%
5.21
89
860
6
25
2.46
1.26
1.2
1.1
—
2.9
—
0
12
23
150
1.65
1.25
1.4
1.5
—
—
—
0
0
8
37
2.24
1.24
1.1
1.1
—
15.1
—
0
7
8
37
2.24
1.24
1.5
2.6
—
—
—
0
0
5
19
2.69
1.22
2.2
1.5
—
—
—
0
0
5
19
2.69
1.22
2.2
1.5
—
—
—
0
0
11
57
2.01
1.21
2.5
1.4
11.6
19.6
iu/l
0.48
11
49
5
20
2.56
1.16
1.0
1.1
—
—
—
0
0
39
296
1.45
1.09
3.8
3.5
43.3
39.1
ng/l
0.07
27
168
12
67
1.87
1.08
1.4
1.4
218.5
287.6
miu/ml
—
7
33
9
46
2.03
1.06
2.0
1.2
—
—
—
0
0
7
131
0.51
1.06
2.0
1.5
—
—
—
0
0
23
160
1.53
0.97
3.7
3.2
44.8
289.2
ng/l
1.08
15
103
63
529
1.37
0.97
5.9
5.0
0.0
0.0
estimate
0.00
11
115
8
43
1.91
0.89
1.1
1.2
—
—
—
0
0
14
88
1.66
0.88
7.5
7.0
—
—
—
0
0
63
537
1.33
0.85
4.0
3.6
0.0
0.0
estimate
—
9
109
6
32
1.92
0.83
2.8
1.2
—
—
—
0
0
22
159
1.46
0.79
2.1
1.8
465.5
455.7
pmol/l
0.05
15
145
90
977
0.75
0.75
3.7
3.5
1.4
1.4
mmol/l
0.71
83
913
61
532
1.27
0.66
4.0
3.5
0.0
0.0
estimate
—
10
111
14
97
1.50
0.62
4.1
3.2
—
—
—
0
0
0
23
0.00
0.59
0.0
2.1
—
—
—
0
0
6
37
1.65
0.56
1.7
1.1
—
—
—
0
0
92
983
0.79
0.56
3.8
3.6
4.4
4.6
mmol/l
0.99
84
920
93
991
0.79
0.54
4.1
3.8
2.6
2.8
mmol/l
1.26
86
923
6
39
1.56
0.53
1.7
1.1
—
—
—
0
0
6
40
1.52
0.52
2.3
2.4
—
—
—
0
0
100
939
1.27
0.51
3.9
3.5
5.9
5.7
mmol/l
0.40
94
863
87
930
0.81
0.49
3.5
3.3
1.2
1.3
mmol/l
0.11
79
866
23
183
1.31
0.49
1.3
1.3
2.6
4.7
u/ml
—
8
73
10
137
0.71
0.41
2.1
1.8
—
—
—
0
0
31
263
1.23
0.41
2.0
2.3
—
—
—
0
0
6
42
1.45
0.36
2.5
2.4
—
—
—
0
0
95
913
1.14
0.24
4.2
3.8
—
—
—
0
0
32
288
1.15
0.22
2.3
2.4
—
—
—
0
0
5
42
1.20
0.21
1.6
1.4
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
4.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
7.6
—
0
7
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
14.7
—
0
13
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
13.2
—
0
14
19
206
0.91
0.09
1.8
1.4
—
—
—
0
0
6
72
0.83
0.08
1.0
1.6
—
—
—
0
0
38
396
0.94
0.07
4.2
3.5
—
—
—
0
0
85
864
0.95
0.05
5.6
4.3
38.6
38.0
mmol/mol
0.20
77
816
28
274
1.03
0.00
4.0
3.7
0.0
0.0
estimate
0.50
11
111
17
169
1.01
0.00
2.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
6
0.00
0.00
0.0
3.5
—
39.7
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
9
89
1.01
0.00
1.6
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
243.7
—
0
7
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
42.0
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
17.9
—
0
7
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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