hereditary persistence of hemoglobin F

Pathology

• form of beta thalassemia in which hemoglobin beta chain synthesis is diminished, but fetal hemoglobin (hemoglobin F) synthesis persists into adulthood

Genetics

• aberrant binding of ETF1 to a mutant site has been implicated in one type of hereditary persistence of fetal hemoglobin

Clinical manifestations

• asymptomatic

Laboratory

• hemoglobin electrophoresis shows persistence of hemoglobin F
• complete blood count (CBC): hemoglobin is generally normal
• Hgb A1c may be falsely low (measure glycated hemoglobin)
• HPFH-6 gene in blood

More general terms

• beta thalassemia

Additional terms

• hemoglobin F