Trait: anemia

Trait Information
Identifier MONDO_0002280
Description A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. [NCIT: C2869]
Trait category
Other disease
Synonyms 3 synonyms
  • anaemia (disease)
  • anemia
  • anemia (disease)
Mapped terms 9 mapped terms
  • DOID:2355
  • HP:0001903
  • ICD9:285.8
  • ICD9:285.9
  • MEDGEN:1526
  • MESH:D000740
  • NCIT:C2869
  • SCTID:271737000
  • UMLS:C0002871
Child trait(s) familial 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
Note: This table shows all PGS for "anemia" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001305
(GBE_HC608)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Vitamin B12 deficiency induced anemia (time-to-event) anemia,
vitamin B12 deficiency		 121
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001305/ScoringFiles/PGS001305.txt.gz
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
PGS018886
(TPMI_285_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other anemias anemia 136
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018886/ScoringFiles/PGS018886.txt.gz
PGS018887
(TPMI_285_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other anemias anemia 939,882
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018887/ScoringFiles/PGS018887.txt.gz
PGS018888
(TPMI_285_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other anemias anemia 479,652
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018888/ScoringFiles/PGS018888.txt.gz
PGS018889
(TPMI_285_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other anemias anemia 983,823
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018889/ScoringFiles/PGS018889.txt.gz
PGS018890
(TPMI_285_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other anemias anemia 953,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018890/ScoringFiles/PGS018890.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
PPM009020 PGS001305
(GBE_HC608)
 PSS004536|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.66063 [0.54547, 0.77579] R²: 0.02699
Incremental AUROC (full-covars): 0.01762
PGS R2 (no covariates): 0.00536
PGS AUROC (no covariates): 0.5839 [0.43974, 0.72805]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009021 PGS001305
(GBE_HC608)
 PSS004538|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.65118 [0.60827, 0.69409] R²: 0.02729
Incremental AUROC (full-covars): 0.02555
PGS R2 (no covariates): 0.00865
PGS AUROC (no covariates): 0.59612 [0.5552, 0.63704]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009022 PGS001305
(GBE_HC608)
 PSS004539|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.72387 [0.6834, 0.76434] R²: 0.06747
Incremental AUROC (full-covars): 0.01252
PGS R2 (no covariates): 0.00966
PGS AUROC (no covariates): 0.57469 [0.52685, 0.62252]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009023 PGS001305
(GBE_HC608)
 PSS004540|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.64482 [0.61972, 0.66993] R²: 0.02374
Incremental AUROC (full-covars): 0.02212
PGS R2 (no covariates): 0.0068
PGS AUROC (no covariates): 0.57972 [0.55331, 0.60612]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
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 —
PPM037068 PGS018886
(TPMI_285_Lassosum2)
 PSS012789|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73242 R²: 0.1931 sex, age, array, PCs 1-10 —
PPM037069 PGS018887
(TPMI_285_LDpred2)
 PSS012788|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73243 R²: 0.19329 sex, age, array, PCs 1-10 —
PPM037070 PGS018888
(TPMI_285_MegaPRS)
 PSS012790|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73195 R²: 0.19232 sex, age, array, PCs 1-10 —
PPM037071 PGS018889
(TPMI_285_PRS-CS)
 PSS012791|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73169 R²: 0.19212 sex, age, array, PCs 1-10 —
PPM037072 PGS018890
(TPMI_285_SBayesR)
 PSS012792|
East Asian Ancestry|
19,029 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other anemias — AUROC: 0.73153 R²: 0.19199 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
PSS004540 — —
[
  • 447 cases
  • , 66,978 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
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 —
PSS012788 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012789 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012790 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012791 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012792 283.2, 284.2, 285, 791.2,D59.5, D59.6, D59.8, D61.82, D62, D63.0, D63.1, D63.8, D64, R82.3 —
[
  • 957 cases
  • , 18,072 controls
]
,
47.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004536 — —
[
  • 19 cases
  • , 6,478 controls
]
 — African unspecified — UKB —
PSS004538 — —
[
  • 160 cases
  • , 24,745 controls
]
 — European non-white British ancestry UKB —
PSS004539 — —
[
  • 138 cases
  • , 7,693 controls
]
 — South Asian — UKB —