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hemoglobin E-beta-thalassemia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemoglobin E-beta-thalassemia syndrome

MONDO:0016491

Also known as:E-beta-thalassemiaHbE-beta-thalassemia syndrome

Overview

Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.

Diagnosis

Biomarker and diagnostic research for hemoglobin E-beta-thalassemia syndrome has been reported in the published literature.

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 hemoglobin E-beta-thalassemia syndrome.

21 publications have been identified in PubMed for hemoglobin E-beta-thalassemia syndrome. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (24%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	7	33%

Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:231249

GARD

Genetic and Rare Diseases Info Center

GARD:20609

Questions for Your Care Team

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hemoglobin E-beta-thalassemia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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