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ORPHA:466026

Class I glucose-6-phosphate dehydrogenase deficiency

low confidenceDisorder

Also known as: Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Publications

6,813

Trials

26

Interventional, condition-specific

Researchers

1,108

Distinct authors in sample

Gene link

G6PD

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare constitutional hemolytic anemia due to an disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and . They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient · anemia, nonspherocytic hemolytic, due to G6PD deficiency · class I glucose-6-phosphate dehydrogenase deficiency · hemolytic anaemia due to G6PD deficiency · hemolytic anemia due to G6PD deficiency · hemolytic anemia, G6PD deficient (favism), X-linked dominant · severe hemolytic anaemia due to G6PD deficiency · severe hemolytic anemia due to G6PD deficiency

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.

  1. Gene identifiedPresent

    Definitive — G6PD

  2. LiteraturePresent

    6,813 matched papers (4,014 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    26 matched on ClinicalTrials.gov (1 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 (G6PD).

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?

6,813

6,813 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

6,813 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).

4,014 in the last 10 years · low confidence

Phrase hits: 6,813 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,108

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.

  1. 01
    Wang L6 papers · 2026

    Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, China.

    Papers in Europe PMC
  2. 02
    Liu S5 papers · 2026

    Jiangsu Provincial Medical Key Laboratory of Fertility Protection and Health Technology Assessment, Jiangsu Health Development Research Center, National Health and Family Planning Commission Contraceptives Adverse Reaction Surveillance Center, Nanjing, China.

    Papers in Europe PMC
  3. 03
    Geck RC4 papers · 2026

    Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.

    Papers in Europe PMC
  4. 04
    Han Y4 papers · 2026

    Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

    Papers in Europe PMC
  5. 05
    Yang J4 papers · 2026

    Department of Anesthesia, Lishui Municipal Central Hospital, Lishui, China.

    Papers in Europe PMC
  6. 06
    Bancone G3 papers · 2026

    Shoklo Malaria Research Unit (SMRU), Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Ramat, Tak, Thailand.

    Papers in Europe PMC
  7. 07
    Boonyuen U3 papers · 2026

    Department of Molecular Tropical Medicine and Genetics, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

    Papers in Europe PMC
  8. 08
    Das S3 papers · 2026

    Division of Pediatric Hematology and Oncology, Department of Pediatrics, Vardhman Mahavir Medical college and Safdarjung Hospital, New Delhi, 110029 India.

    Papers in Europe PMC
  9. 09
    Gornsawun G3 papers · 2026

    Shoklo Malaria Research Unit (SMRU), Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Mae Ramat, Tak, Thailand.

    Papers in Europe PMC
  10. 10
    Huang YC3 papers · 2026

    Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

26

interventional trials for this specific condition

26 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

26 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.3th percentile).

low confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

26 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

12 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Class I glucose-6-phosphate dehydrogenase deficiency" OR "Class I G6PD deficiency" OR "Severe hemolytic anemia due to G6PD deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient" OR "anemia, nonspherocytic hemolytic, due to G6PD deficiency" OR "hemolytic anaemia due to G6PD deficiency" OR "hemolytic anemia due to G6PD deficiency" OR "hemolytic anemia, G6PD deficient (favism), X-linked dominant" OR "severe hemolytic anaemia due to G6PD deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Class I glucose-6-phosphate dehydrogenase deficiency" OR "Class I G6PD deficiency" OR "Severe hemolytic anemia due to G6PD deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient" OR "anemia, nonspherocytic hemolytic, due to G6PD deficiency" OR "hemolytic anaemia due to G6PD deficiency" OR "hemolytic anemia due to G6PD deficiency" OR "hemolytic anemia, G6PD deficient (favism), X-linked dominant" OR "severe hemolytic anaemia due to G6PD deficiency" OR "G6PD"

Recall-expansion terms: G6PD

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 26 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, 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
  • Publication count (6813) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:57:46.939Z