Trait: familial hemolytic anemia

Trait Information
Identifier MONDO_0003689
Description A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. [NCIT: C34379]
Trait category
Other trait
Synonyms 4 synonyms
  • anaemia hemolytic congenital
  • anemia hemolytic congenital
  • congenital hemolytic anemia
  • hereditary hemolytic anemia

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018881
(TPMI_282_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hereditary hemolytic anemias familial hemolytic anemia 388
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018881/ScoringFiles/PGS018881.txt.gz
PGS018882
(TPMI_282_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hereditary hemolytic anemias familial hemolytic anemia 80,045
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018882/ScoringFiles/PGS018882.txt.gz
PGS018883
(TPMI_282_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hereditary hemolytic anemias familial hemolytic anemia 489,435
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018883/ScoringFiles/PGS018883.txt.gz
PGS018884
(TPMI_282_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hereditary hemolytic anemias familial hemolytic anemia 983,782
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018884/ScoringFiles/PGS018884.txt.gz
PGS018885
(TPMI_282_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hereditary hemolytic anemias familial hemolytic anemia 685,561
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018885/ScoringFiles/PGS018885.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM037063 PGS018881
(TPMI_282_Lassosum2)
 PSS012784|
East Asian Ancestry|
18,170 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hereditary hemolytic anemias — AUROC: 0.82601 R²: 0.03564 sex, age, array, PCs 1-10 —
PPM037064 PGS018882
(TPMI_282_LDpred2)
 PSS012783|
East Asian Ancestry|
18,170 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hereditary hemolytic anemias — AUROC: 0.84897 R²: 0.04744 sex, age, array, PCs 1-10 —
PPM037065 PGS018883
(TPMI_282_MegaPRS)
 PSS012785|
East Asian Ancestry|
18,170 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hereditary hemolytic anemias — AUROC: 0.78452 R²: 0.01814 sex, age, array, PCs 1-10 —
PPM037066 PGS018884
(TPMI_282_PRS-CS)
 PSS012786|
East Asian Ancestry|
18,170 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hereditary hemolytic anemias — AUROC: 0.81714 R²: 0.03046 sex, age, array, PCs 1-10 —
PPM037067 PGS018885
(TPMI_282_SBayesR)
 PSS012787|
East Asian Ancestry|
18,170 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hereditary hemolytic anemias — AUROC: 0.81639 R²: 0.03106 sex, age, array, PCs 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012783 282,D55, D56, D57, D58 —
[
  • 98 cases
  • , 18,072 controls
]
,
47.99 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012784 282,D55, D56, D57, D58 —
[
  • 98 cases
  • , 18,072 controls
]
,
47.99 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012785 282,D55, D56, D57, D58 —
[
  • 98 cases
  • , 18,072 controls
]
,
47.99 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012786 282,D55, D56, D57, D58 —
[
  • 98 cases
  • , 18,072 controls
]
,
47.99 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012787 282,D55, D56, D57, D58 —
[
  • 98 cases
  • , 18,072 controls
]
,
47.99 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —