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ORPHA:293825

Autosomal dominant KLF1-related dyserythropoietic anemia

high confidenceDisorder

Also known as: Congenital dyserythropoietic anemia type IVa · Congenital dyserythropoietic anemia type 4a · CDA type IVa · CDA type 4a

Publications

100

63.1th percentile

Trials

0

Interventional, condition-specific

Researchers

601

Distinct authors in sample

Gene link

KLF1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of dyserythropoietic anemia (CDA) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, , hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic and occasional features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same -negative missense variant, E325K, in the KLF1 gene (19p13.2).

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)

CDA IV · CDA due to KLF1 mutation · CDA type 4 · CDA type IV · CDAN4 · congenital dyserythropoietic anemia due to KLF1 mutation · congenital dyserythropoietic anemia type 4 · dyserythropoietic anemia, congenital, type IV

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — KLF1

  2. LiteraturePresent

    100 matched papers (82 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 trialPartial

    None under the specific name; 2114 for broader category anemia

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 (KLF1).

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?

100

100 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

100 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).

82 in the last 10 years · high confidence · 63.1th percentile (publications denominator)

Phrase hits: 100 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

601

Distinct author names in 100 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Bieker JJ21 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA james.bieker@mssm.edu.

    Papers in Europe PMC
  2. 02
    Gnanapragasam MN7 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  3. 03
    Iolascon A5 papers · 2021

    Department of Molecular Medicine and Medical Biotechnology, University Federico II Naples, Italy achille.iolascon@unina.it.

    Papers in Europe PMC
  4. 04
    Perkins AC5 papers · 2021

    Mater Research Institute, University of Queensland, Woolloongabba QLD 4102, Queensland, Australia.

    Papers in Europe PMC
  5. 05
    Russo R5 papers · 2021

    Department of Molecular Medicine and Medical Biotechnology, University Federico II Naples, Italy.

    Papers in Europe PMC
  6. 06
    Siatecka M5 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  7. 07
    Tamary H5 papers · 2025

    Pediatric Hematology Unit, Schneider Children's Medical Center of Israel, Petah Tiqva, Sackler Faculty of Medicine, Tel Aviv University, Israel.

    Papers in Europe PMC
  8. 08
    Philipsen S4 papers · 2024

    Department of Cell Biology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Xue L4 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  10. 10
    Andolfo I3 papers · 2021

    Department of Molecular Medicine and Medical Biotechnology, University Federico II Naples, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 2,114 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

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,114 interventional trials matched anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: anemia

2,114

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

1 observational study matches 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.

"Autosomal dominant KLF1-related dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia type IVa" OR "Congenital dyserythropoietic anemia type 4a" OR "CDA type IVa" OR "CDA type 4a" OR "CDA IV" OR "CDA due to KLF1 mutation" OR "CDA type 4" OR "CDA type IV" OR "CDAN4" OR "congenital dyserythropoietic anemia due to KLF1 mutation" OR "congenital dyserythropoietic anemia type 4" OR "dyserythropoietic anemia, congenital, type IV"

Run this search on Europe PMC

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

"Autosomal dominant KLF1-related dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia type IVa" OR "Congenital dyserythropoietic anemia type 4a" OR "CDA type IVa" OR "CDA type 4a" OR "CDA IV" OR "CDA due to KLF1 mutation" OR "CDA type 4" OR "CDA type IV" OR "CDAN4" OR "congenital dyserythropoietic anemia due to KLF1 mutation" OR "congenital dyserythropoietic anemia type 4" OR "dyserythropoietic anemia, congenital, type IV" OR "KLF1"

Recall-expansion terms: KLF1

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"anemia"

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 2026-07-27T12:23:20.393Z