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sickle cell-hemoglobin E disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sickle cell-hemoglobin E disease syndrome

MONDO:0016671

Also known as:HbSE disease

Overview

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 genotype 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%).

ResearchLimited published research (5 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sickle cell-hemoglobin E disease syndrome.

5 publications have been identified in PubMed for sickle cell-hemoglobin E disease syndrome. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Mukunya D (2026). [PMID: 41889597](https://pubmed.ncbi.nlm.nih.gov/41889597/). *International medical case reports journal*. [Case Report / Case Series]
Sezaki M (2026). [PMID: 41623180](https://pubmed.ncbi.nlm.nih.gov/41623180/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Alzahrani LM (2026). [PMID: 41742975](https://pubmed.ncbi.nlm.nih.gov/41742975/). *Cureus*. [Case Report / Case Series]
Ubom AE (2025). [PMID: 41031541](https://pubmed.ncbi.nlm.nih.gov/41031541/). *International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics*. [Review / Meta-Analysis]
Al-Asmari B (2024). [PMID: 38857199](https://pubmed.ncbi.nlm.nih.gov/38857199/). *Journal of pediatric hematology/oncology*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:251375

GARD

Genetic and Rare Diseases Info Center

GARD:20700

Questions for Your Care Team

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Kisho

sickle cell-hemoglobin E disease syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Novo’s late-stage sickle cell win piles pressure on competitors

sickle cell-hemoglobin E disease syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Novo’s late-stage sickle cell win piles pressure on competitors