hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Findings
No curated finding names hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018749), read 2026-09-29. CC BY 4.0.
Features
6 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.
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- Persistence of hemoglobin FHPOHP:0011904
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abnormal bone structureHPOHP:0003330
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% 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.
- HBG1HGNC:4831
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- HBG2HGNC:4832
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- HBBHGNC:4827
- Supportive · Orphanet · Autosomal dominant · 2021
- KLF1HGNC:6345
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- Also called
- HPFH-beta-thalassemia syndrome