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hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

MONDO:0016672

Also known as:HPFH-sickle cell disease syndrome

Overview

A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.

ResearchLimited published research (3 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 always present findings: Persistence of hemoglobin F; and common findings: HbS hemoglobin. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Persistence of hemoglobin F, HbS hemoglobin, Enlarged spleen (splenomegaly)

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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-sickle cell disease syndrome.

3 publications have been identified in PubMed for hereditary persistence of fetal hemoglobin-sickle cell disease syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Daniel CE (2025). [PMID: 40084327](https://pubmed.ncbi.nlm.nih.gov/40084327/). *Cureus*. [Case Report / Case Series]
Bokhary M (2025). [PMID: 40777672](https://pubmed.ncbi.nlm.nih.gov/40777672/). *Cureus*. [Case Report / Case Series]
Alnaqbi KA (2024). [PMID: 39113817](https://pubmed.ncbi.nlm.nih.gov/39113817/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:251380

GARD

Genetic and Rare Diseases Info Center

GARD:18648

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hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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