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ORPHA:98878

Hemophilia A

medium confidenceDisorder

Also known as: Congenital F8 deficiency · Congenital FVIII deficiency · Congenital Factor VIII deficiency

Publications

60,681

99.5th percentile

Trials

336

Interventional, condition-specific

Researchers

1,270

Distinct authors in sample

Gene link

F8

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

congenital factor VIII disorder · factor VIII deficiency · haemophilia a, X-linked recessive · haemophilia type A · haemophilia type a · hemophilia A · hemophilia a, X-linked recessive · hemophilia type A · hemophilia type a · hereditary Factor VIII deficiency · hereditary Factor VIII deficiency disease

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 — F8

  2. LiteraturePresent

    60,681 matched papers (26,019 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

    336 matched on ClinicalTrials.gov (49 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 (F8).

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?

60,681

60,681 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.

60,681 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).

26,019 in the last 10 years · medium confidence · 99.5th percentile (publications denominator)

Phrase hits: 60,681 · MeSH hits: 1,100

Open Europe PMC search

Who's working on it?

1,270

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
    Matino D6 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  2. 02
    Peyvandi F5 papers · 2026

    Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan.

    Papers in Europe PMC
  3. 03
    Gould T4 papers · 2026

    Pfizer Inc. New York, New York, USA.

    Papers in Europe PMC
  4. 04
    Iorio A4 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  5. 05
    Keepanasseril A4 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  6. 06
    Mahlangu J4 papers · 2026

    Department of Molecular Medicine and Hematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

    Papers in Europe PMC
  7. 07
    Acharya SS3 papers · 2026

    Cohen Children's Medical Center, Northwell Hemostasis and Thrombosis Center, Northwell Health, New Hyde Park, NY.

    Papers in Europe PMC
  8. 08
    Germini F3 papers · 2026

    Department of Medicine, Division of Hematology, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  9. 09
    Ibrahim Q3 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC
  10. 10
    Iserman E3 papers · 2026

    Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

336

interventional trials for this specific condition

336 interventional trials matched this specific condition name; 49 currently recruiting in our sample. 154 trials are registered for hemophilia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

336 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.6th percentile).

medium confidence · 99.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemophilia

154

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

183 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.

"Hemophilia A" OR "Congenital F8 deficiency" OR "Congenital FVIII deficiency" OR "Congenital Factor VIII deficiency" OR "congenital factor VIII disorder" OR "factor VIII deficiency" OR "haemophilia a, X-linked recessive" OR "haemophilia type A" OR "hemophilia a, X-linked recessive" OR "hemophilia type A" OR "hereditary Factor VIII deficiency" OR "hereditary Factor VIII deficiency disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemophilia A

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

"Hemophilia A" OR "Congenital F8 deficiency" OR "Congenital FVIII deficiency" OR "Congenital Factor VIII deficiency" OR "congenital factor VIII disorder" OR "factor VIII deficiency" OR "haemophilia a, X-linked recessive" OR "haemophilia type A" OR "hemophilia a, X-linked recessive" OR "hemophilia type A" OR "hereditary Factor VIII deficiency" OR "hereditary Factor VIII deficiency disease" OR "F8"

Recall-expansion terms: F8

Interventional trials matched via: both, 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: 336 interventional · 183 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemophilia"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:39:00.060Z