Secondary sideroblastic anaemia

D3_SIDEROANASCND

anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']

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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 D64.1, D64.2#
  • Hospital discharge: ICD-9 2850B
  • Cause of death: ICD-10 D64.1, D64.2#
  • Cause of death: ICD-9 2850B

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

103

4. Check minimum number of events

None

103

5. Include endpoints

None

103

6. Filter based on genotype QC (FinnGen only)

103

Control definitions (FinnGen only)

Control exclude
D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

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 1282 722 533
Only index persons 764 448 316
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.01
Only index persons 0.01 0.02 0.01
Median age at first event (years)
Whole population 73.93 74.43 73.16
Only index persons 71.08 70.32 72.17

-FinnGen-

Key figures

All Female Male
Number of individuals 103 53 50
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 67.79 62.67 73.22

-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
96
Matched controls
958
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.1
ICD-10 Finland
Secondary sideroblastic anaemia due to disease
+∞
92.0
73
*
D64.9
ICD-10 Finland
Anaemia, unspecified
179.6
56.6
55
7
D64.2
ICD-10 Finland
Secondary sideroblastic anaemia due to drugs and toxins
+∞
23.9
22
*
B03XA02
ATC
darbepoetin alfa; parenteral
135.6
11.7
12
*
ZX120
NOMESCO Finland
Intravenous
7.5
10.3
25
43
XW000
NOMESCO Finland
Bone marrow biopsy
23.1
10.1
14
7
A04AA01
ATC
ondansetron; systemic, rectal
12.0
10.0
18
18
UJF32
NOMESCO Finland
Coloscopy
4.6
9.3
37
115
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.3
9.3
42
148
WW500
NOMESCO Finland
Blood transfusion
14.5
9.2
15
12
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
19.3
8.3
12
7
A49.9
ICD-10 Finland
Bacterial infection, unspecified
5.6
8.3
25
57
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
7.4
8.1
19
31
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
20.4
7.8
11
6
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
9.6
7.7
15
18
D46.9
ICD-10 Finland
Myelodysplastic syndrome, unspecified
+∞
7.4
7
*
D46.1
ICD-10 Finland
Refractory anaemia with ring sideroblasts
+∞
7.4
7
*
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
12.3
7.0
12
11
Z51.5
ICD-10 Finland
Palliative care
6.9
6.7
16
27
C03CA01
ATC
furosemide; systemic
3.0
6.4
50
252
Z48.0
ICD-10 Finland
Attention to surgical dressings and sutures
13.8
6.2
10
8

Mortality – FinRegistry

Association

Association between endpoint D3_SIDEROANASCND and mortality.

Females

Parameter HR [95% CI] p-value
D3_SIDEROANASCND 3.542 [2.71, 4.64] < 0.001
Birth year 0.994 [0.99, 1.0] 0.186

During the follow-up period (1.1.1998 — 31.12.2019), 412 out of 577 females with D3_SIDEROANASCND died.

Males

Parameter HR [95% CI] p-value
D3_SIDEROANASCND 3.319 [2.26, 4.86] < 0.001
Birth year 0.983 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 305 out of 410 males with D3_SIDEROANASCND died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANASCND.

N-year risk Females Males
1 0.2% 0.499%
5 2.037% 3.407%
10 5.222% 7.914%
15 9.388% 15.3%
20 16.198% 24.868%

Relationships between endpoints

Index endpoint: D3_SIDEROANASCND – Secondary 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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