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ORPHA:2132

Hemoglobin C disease

high confidenceDisorder

Also known as: HbCC disease

Publications

917

65.6th percentile

Trials

5

Interventional, condition-specific

Researchers

1,181

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).

How rare: >1 / 1000

Orphanet entry

Cross-references

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

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.”

2/6 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

    917 matched papers (172 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    5 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

917

917 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=3967) is 59.

917 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).

172 in the last 10 years · high confidence · 65.6th percentile (publications denominator)

Phrase hits: 917 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,181

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
    Connes P16 papers · 2025

    Inter-University Laboratory of Human Movement Sciences (LIBM) EA7424, Team "Vascular Biology and Red Blood Cell", University Claude Bernard Lyon 1, 69100 Villeurbanne, France.

    Papers in Europe PMC
  2. 02
    Etienne-Julan M11 papers · 2019

    CHU de Pointe-à-Pitre, Unité transversale de la Drépanocytose, Pointe-à-Pitre, Guadeloupe. Electronic address: maryse.etienne-julan@chu-guadeloupe.fr.

    Papers in Europe PMC
  3. 03
    Hardy-Dessources MD10 papers · 2019

    UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratory of Excellence GR-Ex «The red cell: from genesis to death», PRES Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC
  4. 04
    Waltz X9 papers · 2017

    UMR Inserm 665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Pointe-à-Pitre, F-97157, France.

    Papers in Europe PMC
  5. 05
    Romana M8 papers · 2019

    UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratory of Excellence GR-Ex «The red cell: from genesis to death», PRES Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC
  6. 06
    Lamarre Y7 papers · 2015

    Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe.

    Papers in Europe PMC
  7. 07
    Lemonne N7 papers · 2019

    pconnes@yahoo.fr.

    Papers in Europe PMC
  8. 08
    Quinn CT7 papers · 2024

    Division of Hematology-Oncology, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX, USA. charlestquinn@gmail.com

    Papers in Europe PMC
  9. 09
    Lalanne-Mistrih ML6 papers · 2014

    Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe CIC-EC 802 Inserm, pôle Guadeloupe, Centre Hospitalier et Universitaire de Pointe-à-Pitre, Pointe-à-Pitre, France.

    Papers in Europe PMC
  10. 10
    Tarer V6 papers · 2017

    CHU de Pointe-à-Pitre, Unité transversale de la Drépanocytose, Pointe-à-Pitre, Guadeloupe. Electronic address: vanessa.tarer@chu-guadeloupe.fr.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 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.

None of the matched observational studies is currently listed as 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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

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 (40)

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 C disease — 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 C disease" OR "HbCC disease"

Run this search on Europe PMC

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

"Hemoglobin C disease" OR "HbCC disease"

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: 5 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

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 2026-07-26T19:13:23.365Z