hereditary persistence of fetal hemoglobin
Also written as: HPFH — hereditary persistence of fetal hemoglobin
A benign genetic condition where fetal hemoglobin continues to be produced at high levels beyond infancy.
Full Definition
Hereditary persistence of fetal hemoglobin (HPFH) is a benign genetic condition characterized by the continued production of high levels of fetal hemoglobin (HbF) throughout life, typically ranging from 15-30% or higher in heterozygotes. Unlike other hemoglobinopathies, HPFH is generally asymptomatic and may even provide protection against certain conditions. In pediatric hematology, HPFH is important to distinguish from other causes of elevated HbF, such as thalassemia or sickle cell disease. The condition results from deletions or point mutations in the beta-globin gene cluster that affect the normal switch from fetal to adult hemoglobin production.
Usage
Usage note: Commonly abbreviated as HPFH; emphasize benign nature to distinguish from pathologic hemoglobinopathies.
In Context
- "The child's elevated hemoglobin F level of 28% was consistent with hereditary persistence of fetal hemoglobin rather than a pathologic condition." — Genetic counseling report