RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:124

Diamond-Blackfan anemia

low confidenceDisorder

Also known as: DBA · Congenital PRCA · Congenital pure red cell aplasia · Diamond-Blackfan anemia syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,358

Trials

37

Interventional, condition-specific

Researchers

1,415

Distinct authors in sample

Gene link

GATA1, HEATR3, RPL31

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Blackfan-Diamond anemia (DBA) is a aregenerative and often macrocytic anemia with erythroblastopenia.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

Aase syndrome · Aase-Smith II syndrome · Blackfan-Diamond anaemia · Blackfan-Diamond anemia · Diamond Blackfan Anemia · chronic constitutional pure red cell anemia · congenital PRCA · congenital hypoplastic anaemia · congenital hypoplastic anemia · congenital hypoplastic anemia, Blackfan-Diamond type · congenital pure red cell aplasia · erythrogenesis imperfecta · inherited erythroblastopenia

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 — GATA1, HEATR3, RPL31, RPL8, RPL9…

  2. LiteraturePresent

    3,358 matched papers (1,886 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

    37 matched on ClinicalTrials.gov (3 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 (GATA1, HEATR3, RPL31…).

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?

3,358

3,358 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.

3,358 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).

1,886 in the last 10 years · low confidence

Phrase hits: 3,358 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,415

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
    Bhoopalan SV8 papers · 2026

    Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, United States.

    Papers in Europe PMC
  2. 02
    Wlodarski MW8 papers · 2026

    Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, United States.

    Papers in Europe PMC
  3. 03
    Da Costa L7 papers · 2026

    AP-HP, Hematology diagnostic laboratory, Hôpital Robert-Debré, Paris, France.

    Papers in Europe PMC
  4. 04
    Liu Y7 papers · 2025

    Guangzhou Key Laboratory of Subtropical Biodiversity and Biomonitoring, Guangdong Provincial Engineering Technology Research Center for Environmentally-friendly Aquaculture, Institute of Modern Aquaculture Science and Engineering, School of Life Sciences, South China Normal University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Iskander D5 papers · 2026

    Department of Paediatrics, St Mary's Hospital, Imperial College Healthcare NHS Trust, London, UK; Department of Immunology and Inflammation, Imperial College London, London, UK.

    Papers in Europe PMC
  6. 06
    Leblanc T5 papers · 2026

    AP-HP, service Immuno-Hématologie pédiatique, Hôpital R. Debré, Paris, France.

    Papers in Europe PMC
  7. 07
    Bartels M4 papers · 2026

    Pediatric Hematology Department, University Medical Center Utrecht, Utrecht, Netherlands.

    Papers in Europe PMC
  8. 08
    Blanc L4 papers · 2026

    Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY, United States of America; Zucker School of Medicine at Hofstra Northwell, Hempstead, NY, United States of America. Electronic address: LBlanc@northwell.edu.

    Papers in Europe PMC
  9. 09
    Gleizes PE4 papers · 2025

    MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UT3, Toulouse, France.

    Papers in Europe PMC
  10. 10
    Han L4 papers · 2026

    Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 2,077 trials are registered for anemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

37 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.3th percentile).

low confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: anemia

2,077

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

8 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.

"Diamond-Blackfan anemia" OR "Congenital PRCA" OR "Congenital pure red cell aplasia" OR "Diamond-Blackfan anemia syndrome" OR "Aase syndrome" OR "Aase-Smith II syndrome" OR "Blackfan-Diamond anaemia" OR "Blackfan-Diamond anemia" OR "Diamond Blackfan Anemia" OR "chronic constitutional pure red cell anemia" OR "congenital hypoplastic anaemia" OR "congenital hypoplastic anemia" OR "congenital hypoplastic anemia, Blackfan-Diamond type" OR "erythrogenesis imperfecta" OR "inherited erythroblastopenia"

Run this search on Europe PMC

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

"Diamond-Blackfan anemia" OR "Congenital PRCA" OR "Congenital pure red cell aplasia" OR "Diamond-Blackfan anemia syndrome" OR "Aase syndrome" OR "Aase-Smith II syndrome" OR "Blackfan-Diamond anaemia" OR "Blackfan-Diamond anemia" OR "Diamond Blackfan Anemia" OR "chronic constitutional pure red cell anemia" OR "congenital hypoplastic anaemia" OR "congenital hypoplastic anemia" OR "congenital hypoplastic anemia, Blackfan-Diamond type" OR "erythrogenesis imperfecta" OR "inherited erythroblastopenia" OR "GATA1" OR "HEATR3" OR "RPL31"

Recall-expansion terms: GATA1, HEATR3, RPL31

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: 37 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"anemia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DBA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3358) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:31:15.247Z