hereditary hemochromatosis type 1: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
451 |
4. Check minimum number of eventsNone |
451 |
5. Include endpointsNone |
451 |
6. Filter based on genotype QC (FinnGen only) |
425 |
Control definitions (FinnGen only)
Control exclude
E4_METABOLIA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E83
Name in latin
Perturbationes metabolismi ferri
Similar endpoints
↥List of similar endpoints to
Disorders of iron metabolism
based on the number of shared cases.
Similar with more cases:
- Disorders of mineral metabolism
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2585 | 1043 | 1510 |
| Only index persons | 2299 | 965 | 1334 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.04 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 55.61 | 56.88 | 54.60 |
| Only index persons | 55.33 | 56.71 | 54.33 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 425 | 197 | 228 |
| Unadjusted period prevalence (%) | 0.10 | 0.08 | 0.11 |
| Median age at first event (years) | 55.26 | 55.31 | 55.23 |
-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
Mortality – FinRegistry
↥Association
Association between endpoint E4_IRON_MET and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_IRON_MET | 1.819 [1.37, 2.42] | < 0.001 |
| Birth year | 0.997 [0.99, 1.01] | 0.43 |
During the follow-up period (1.1.1998 — 31.12.2019), 117 out of 700 females with E4_IRON_MET died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_IRON_MET | 2.068 [1.7, 2.51] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 233 out of 1047 males with E4_IRON_MET died.
Mortality risk
Mortality risk for people of age
years, who have E4_IRON_MET.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.185% | 0.41% |
| 5 | 1.129% | 2.443% |
| 10 | 2.835% | 6.134% |
| 15 | 5.252% | 11.96% |
| 20 | 8.954% | 19.321% |
Relationships between endpoints
↥Index endpoint: E4_IRON_MET – Disorders of iron metabolism
GWS hits: 3
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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