ORPHA:766
Hemolytic anemia due to red cell pyruvate kinase deficiency
Also known as: Pyruvate kinase deficiency of erythrocytes
Publications
1,838
92.7th percentile
Trials
10
Interventional, condition-specific
Researchers
1,039
Distinct authors in sample
Gene link
PKLR
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009950
- MeSH:C564858
- OMIM:266200
- UMLS:C0340968
- NCIT:C99037
Additional Mondo synonyms (11)
PK deficiency · Pyruvate Kinase Deficiency · anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient · hemolytic anaemia due to pyruvate Kinase deficiency · hemolytic anaemia due to red cell pyruvate kinase deficiency · hemolytic anemia due to pyruvate Kinase deficiency · hemolytic anemia due to red cell pyruvate kinase deficiency · pyruvate kinase deficiency · pyruvate kinase deficiency of erythrocyte · pyruvate kinase deficiency of erythrocytes · pyruvate kinase deficiency of red cells
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PKLR
- LiteraturePresent
1,838 matched papers (840 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
10 matched on ClinicalTrials.gov (2 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PKLR).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,838
1,838 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,838 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
840 in the last 10 years · high confidence · 92.7th percentile (publications denominator)
Phrase hits: 1,838 · MeSH hits: 0
Who's working on it?
1,039
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Al-Samkari H23 papers · 2026
Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Glenthøj A21 papers · 2026
Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Papers in Europe PMC - 03Barcellini W20 papers · 2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 04Grace RF18 papers · 2026
Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 05van Beers EJ16 papers · 2026
Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Papers in Europe PMC - 06Grace R15 papers · 2023
Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Boston, MA, United States of America
Papers in Europe PMC - 07Bianchi P12 papers · 2024
U.O.C. Ematologia, U.O.S. Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 08Kuo KHM12 papers · 2025
Division of Hematology, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 09Beynon V11 papers · 2024
Agios Pharmaceuticals, Inc., Cambridge, Massachusetts, USA.
Papers in Europe PMC - 10Chonat S11 papers · 2024
Department of Pediatrics, Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
high confidence · 91.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07612345·NOT YET RECRUITING·High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study
Conditions: Pyruvate Kinase Deficiency · Glucose 6 Phosphate Dehydrogenase Deficiency·Matched via name phrase
- NCT05777993·ENROLLING BY INVITATION·A Study to Provide Continued Access to Mitapivat for Participants Who Previously Completed an Agios-Sponsored Mitapivat Study
Conditions: Pyruvate Kinase Deficiency · Anemia, Hemolytic·Matched via name phrase
Observational and natural-history studies
7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03685721·RECRUITING·Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease
Conditions: Sickle Cell · PKLR Variants · Adenosine Triphosphate Activities·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Hemolytic anemia due to red cell pyruvate kinase deficiency" OR "Pyruvate kinase deficiency of erythrocytes" OR "Pyruvate kinase deficiency of the erythrocytes" OR "PK deficiency" OR "Pyruvate Kinase Deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient" OR "hemolytic anaemia due to pyruvate Kinase deficiency" OR "hemolytic anaemia due to red cell pyruvate kinase deficiency" OR "hemolytic anemia due to pyruvate Kinase deficiency" OR "pyruvate kinase deficiency of erythrocyte" OR "pyruvate kinase deficiency of the erythrocyte" OR "pyruvate kinase deficiency of red cells" OR "pyruvate kinase deficiency of the red cells"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hemolytic anemia due to red cell pyruvate kinase deficiency" OR "Pyruvate kinase deficiency of erythrocytes" OR "Pyruvate kinase deficiency of the erythrocytes" OR "PK deficiency" OR "Pyruvate Kinase Deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient" OR "hemolytic anaemia due to pyruvate Kinase deficiency" OR "hemolytic anaemia due to red cell pyruvate kinase deficiency" OR "hemolytic anemia due to pyruvate Kinase deficiency" OR "pyruvate kinase deficiency of erythrocyte" OR "pyruvate kinase deficiency of the erythrocyte" OR "pyruvate kinase deficiency of red cells" OR "pyruvate kinase deficiency of the red cells" OR "PKLR"
Recall-expansion terms: PKLR
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 10 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:16:49.972Z