ORPHA:251359
Sickle cell-beta-thalassemia disease
Also known as: HbS-beta-thalassemia syndrome
Publications
544
73.4th percentile
Trials
3
Interventional, condition-specific
Researchers
1,091
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and .
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:0016668
- UMLS:C0221019
- NCIT:C95539
Additional Mondo synonyms (5)
Hb S-Beta thalassemia · S-Beta thalassemia · sickle cell-Beta thalassemia · sickle cell-Beta-thalassemia · sickle cell-beta-thalassemia disease syndrome
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
544 matched papers (272 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
3 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?
544
544 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.
544 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).
272 in the last 10 years · high confidence · 73.4th percentile (publications denominator)
Phrase hits: 544 · MeSH hits: 0
Who's working on it?
1,091
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.
- 01Voskaridou E6 papers · 2019
Thalassemia Center, Laikon General Hospital, Athens, Greece. ersi_voskaridou@yahoo.com
Papers in Europe PMC - 02Terpos E5 papers · 2019
Department of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, National and Kapodistrian University of Athens, 80 Vas. Sofias Avenue, 11528, Athens, Greece. eterpos@med.uoa.gr.
Papers in Europe PMC - 03
- 04Knisely MR4 papers · 2025
Duke University School of Nursing, Durham, NC 27710, United States.
Papers in Europe PMC - 05
- 06Christoulas D3 papers · 2019
Department of Haematology, 251 General AirForce Hospital, Athens, Greece.
Papers in Europe PMC - 07Dimopoulou M3 papers · 2023
Thalassaemia Centre, Laikon General Hospital, Athens, Greece.
Papers in Europe PMC - 08Ghimire P3 papers · 2023
Department of Radiology Nepalgunj Medical College and Teaching Hospital Kohalpur Nepal.
Papers in Europe PMC - 09Gordeuk VR3 papers · 2025
University of Illinois Chicago, 840 S. Wood St., MC 856 Pediatrics, 60612, Chicago, IL, USA.
Papers in Europe PMC - 10Hanafy E3 papers · 2026
Prince Sultan Oncology Center, King Salman Armed Forces Hospital, Tabuk, SAU.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
high confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Sickle cell-beta-thalassemia disease — check Associations / patient organisations on that page.
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-beta-thalassemia disease" OR "HbS-beta-thalassemia syndrome" OR "Hb S-Beta thalassemia" OR "S-Beta thalassemia" OR "sickle cell-Beta thalassemia" OR "sickle cell-Beta-thalassemia" OR "sickle cell-beta-thalassemia disease syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sickle cell-beta-thalassemia disease" OR "HbS-beta-thalassemia syndrome" OR "Hb S-Beta thalassemia" OR "S-Beta thalassemia" OR "sickle cell-Beta thalassemia" OR "sickle cell-Beta-thalassemia" OR "sickle cell-beta-thalassemia disease syndrome"
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: 3 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 2026-07-27T10:45:07.030Z