ORPHA:251365
Sickle cell S-C disease
Also known as: HbSC disease · Hemoglobin S-C disease · Sickle cell-hemoglobin C disease
Publications
685
85.7th percentile
Trials
5
Interventional, condition-specific
Researchers
1,046
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016669
- UMLS:C0019034
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
685 matched papers (321 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
685
685 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.
685 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).
321 in the last 10 years · high confidence · 85.7th percentile (publications denominator)
Phrase hits: 685 · MeSH hits: 0
Who's working on it?
1,046
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.
- 01Connes P9 papers · 2019
UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratoire ACTES (EA 3596), Département de Physiologie, 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 - 02Etienne-Julan M8 papers · 2019
Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe Unité Transversale de la Drépanocytose du Centre Hospitalier et Universitaire de Pointe-à-Pitre, Pointe-à-Pitre, France Centre de référence maladies rare pour la drépanocytose aux Antilles-Guyane, Centre Hospitalier et Universitaire de Pointe-à-Pitre, Pointe-à-Pitre, France.
Papers in Europe PMC - 03Rees DC7 papers · 2025
Department of Paediatric Haematology, King's College Hospital, King's College London School of Medicine, UK. david.rees2@nhs.net.
Papers in Europe PMC - 04Romana M7 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 - 05Waltz X7 papers · 2017
Inserm 665, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France.
Papers in Europe PMC - 06Hardy-Dessources MD6 papers · 2017
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 - 07Lemonne N6 papers · 2019
Unité Transversale de la Drépanocytose, CHU de Pointe-à-Pitre, 97159 Pointe-à-Pitre, Guadeloupe.
Papers in Europe PMC - 08Mensah E6 papers · 2025
Department of Hematology, University of Ghana Medical School, Accra, Ghana.
Papers in Europe PMC - 09Olayemi E6 papers · 2026
Ghana Institute of Clinical Genetics and Department of Haematology, University of Ghana, Accra, Ghana.
Papers in Europe PMC - 10Lamarre Y5 papers · 2015
Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe.
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 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th 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.
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 2026-07-26This 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.
"Sickle cell S-C disease" OR "HbSC disease" OR "Hemoglobin S-C disease" OR "Sickle cell-hemoglobin C disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sickle cell S-C disease" OR "HbSC disease" OR "Hemoglobin S-C disease" OR "Sickle cell-hemoglobin C 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 · 0 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 2026-07-27T10:45:22.273Z