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Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Disease definition
Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
ORPHA:46532
Classification level: DisorderSummary
Epidemiology
Prevalence of this form is not known.
Clinical description
The association of HPFH with beta-thalassemia mitigates the clinical manifestations which vary from a normal state to beta-thalassemia intermedia (see this term).
Etiology
HPFH is due to deletions in the beta-globin gene cluster or point mutations in the HBG1 and HBG2 genes (11p15.5).
Diagnostic methods
Diagnosis is based on the presence of a significant elevation in HbF ranging from 10-40% in heterozygotes with normal or near normal red blood cell indices. HbF is homogeneously distributed among the erythrocytes and HbA2 is normal or reduced.
Differential diagnosis
The distinction between HPFH and delta-beta-thalassemia (see this term) is subtle and should be confirmed by alpha-beta-globin chain synthesis ratio and DNA analysis since the distinction between these two conditions is not always possible from routine hematologic analyses.
Genetic counseling
HPFH transmission is co-dominant. Homozygosis for the non-deletional form has to date been reported in rare cases.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011)
Detailed information
Disability
- Disability factsheet
- Français (2020, pdf) - Orphanet
Genetic Testing
- Guidance for genetic testing
- Français (2019, pdf) - ANPGM
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information