ORPHA:251375
Sickle cell S-E disease
Also known as: HbSE disease · Hemoglobin S-E disease · Sickle cell-hemoglobin E disease
Publications
39
36.4th percentile
Trials
0
Interventional, condition-specific
Researchers
131
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).
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:0016671
- UMLS:C1112747
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
39 matched papers (19 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
39
39 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.
39 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).
19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)
Phrase hits: 39 · MeSH hits: 0
Who's working on it?
131
Distinct author names in 39 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.
- 01Khamees I4 papers · 2023
Department of Internal Medicine, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Papers in Europe PMC - 02AKSOY M3 papers · 1960Papers in Europe PMC
- 03Ata F3 papers · 2023
Department of Endocrinology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Papers in Europe PMC - 04Steinberg MH3 papers · 2016
Boston University School of Medicine, Boston, MA 02118, USA. mhsteinb@bu.edu
Papers in Europe PMC - 05Yassin MA3 papers · 2022
Department of Medical Oncology/Hematology National Centre for Cancer Care and Research, Hamad Medical Corporation Doha Qatar.
Papers in Europe PMC - 06Iqbal P2 papers · 2023
Department of Internal Medicine, Metropolitan Hospital, New York, NY, USA.
Papers in Europe PMC - 07Javed S2 papers · 2023
Department of Internal Medicine, Icahn school of medicine at Mount Sinai/Queens Hospital Center, New York, NY, USA.
Papers in Europe PMC - 08Sardar S2 papers · 2023
Department of Medicine, Division of Nephrology, Pennsylvania State University College of Medicine, Hershey Medical Center, Hershey, PA, USA.
Papers in Europe PMC - 09Soliman AT2 papers · 2021
Department of Paediatrics, University of Alexandria, Alexandria, Egypt.
Papers in Europe PMC - 10Yousaf Z2 papers · 2023
Department of Internal Medicine, Reading Hospital - Tower Health, West Reading, PA, USA.
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.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
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-E disease" OR "HbSE disease" OR "Hemoglobin S-E disease" OR "Sickle cell-hemoglobin E disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sickle cell S-E disease" OR "HbSE disease" OR "Hemoglobin S-E disease" OR "Sickle cell-hemoglobin E disease"
Study-type breakdown: 0 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 2026-07-27T10:45:51.019Z