hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Findings
No curated finding names hereditary persistence of fetal hemoglobin-sickle cell disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016672), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Persistence of hemoglobin FHPOHP:0011904
- Obligate (100% of cases)
- HbS hemoglobinHPOHP:0045047
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
- AspleniaHPOHP:0001746
- Occasional (5% to 29% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Occasional (5% to 29% of cases)
- Increased red cell sickling tendency
Show the remaining 1
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- Also called
- HPFH-sickle cell disease syndrome