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ORPHA:163596

Hemoglobin Bart's fetalis syndrome

medium confidenceDisorder

Also known as: HBHF · Haemoglobin Bart's disease · Haemoglobin Bart's hydrops fetalis · Hb Bart's hydrops fetalis syndrome · Hemoglobin Bart's disease · Hemoglobin Bart's hydrops fetalis · Homozygous alpha0-thalassemia · Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major · BHFS

Publications

318

64.3th percentile

Trials

1

Interventional, condition-specific

Researchers

897

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

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 (5)

HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalis · Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2 · Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2 · alpha-thalassemia hydrops fetalis · homozygous alpha0-thalassemia

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    318 matched papers (159 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Pallor; Polyhydramnios; Oligohydramnios) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0015579

  • Pallor
  • Polyhydramnios
  • Oligohydramnios
  • Congestive heart failure
  • Pericarditis

Showing 5 of 11 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

318

318 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=3967) is 59.

318 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

159 in the last 10 years · medium confidence · 64.3th percentile (publications denominator)

Phrase hits: 318 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

897

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
    Tongsong T35 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine Chiang Mai University, Chiang Mai 50200, Thailand. ttongson@mail.med.cmu.ac.th.

    Papers in Europe PMC
  2. 02
    Luewan S30 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiangmai University, Chiangmai, Thailand.

    Papers in Europe PMC
  3. 03
    Srisupundit K21 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

    Papers in Europe PMC
  4. 04
    Tongprasert F19 papers · 2026

    Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. fpunyath@med.cmu.ac.th

    Papers in Europe PMC
  5. 05
    Fucharoen S13 papers · 2025

    3Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakorn Pathom, 73170 Thailand.

    Papers in Europe PMC
  6. 06
    Jatavan P12 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

    Papers in Europe PMC
  7. 07
    Sirichotiyakul S9 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine Chiang Mai University, Thailand.

    Papers in Europe PMC
  8. 08
    Li DZ8 papers · 2021

    Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  9. 09
    Wanapirak C8 papers · 2026

    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

    Papers in Europe PMC
  10. 10
    Amid A6 papers · 2025

    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hemoglobin Bart's fetalis syndrome — check Associations / patient organisations on that page.

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.

"Hemoglobin Bart's fetalis syndrome" OR "Haemoglobin Bart's disease" OR "Haemoglobin Bart's hydrops fetalis" OR "Hb Bart's hydrops fetalis syndrome" OR "Hemoglobin Bart's disease" OR "Hemoglobin Bart's hydrops fetalis" OR "Homozygous alpha0-thalassemia" OR "Alpha-thalassemia hydrops fetalis" OR "Alpha-thalassemia major" OR "HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalis" OR "Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2" OR "Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2"

Run this search on Europe PMC

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

"Hemoglobin Bart's fetalis syndrome" OR "Haemoglobin Bart's disease" OR "Haemoglobin Bart's hydrops fetalis" OR "Hb Bart's hydrops fetalis syndrome" OR "Hemoglobin Bart's disease" OR "Hemoglobin Bart's hydrops fetalis" OR "Homozygous alpha0-thalassemia" OR "Alpha-thalassemia hydrops fetalis" OR "Alpha-thalassemia major" OR "HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalis" OR "Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2" OR "Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HBHF; BHFS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:09:15.385Z