Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

MONDO:0018749

Also known as:HPFH-beta-thalassemia syndrome

Overview

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Pallor, Enlarged spleen (splenomegaly), Low red blood cell count (anemia), and Persistence of hemoglobin F; and common findings: Enlarged liver (hepatomegaly) and Abnormal bone structure (abnormal bone structure).

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Enlarged spleen (splenomegaly), Low red blood cell count (anemia), Persistence of hemoglobin F

Prognosis

Phenotype severity distribution: 4 very common features, 2 common features.

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 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome.

2 publications have been identified in PubMed for hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Tashfeen S (2025). [PMID: 40373022](https://pubmed.ncbi.nlm.nih.gov/40373022/). *PloS one*. [Epidemiology / Natural History]
Daniel CE (2025). [PMID: 40084327](https://pubmed.ncbi.nlm.nih.gov/40084327/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 2:20 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:46532

GARD

Genetic and Rare Diseases Info Center

GARD:18642

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features