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: 1) hemoglobin electrophoresis shows persistence of hemoglobin F 2) complete blood count (CBC): hemoglobin is generally normal 3) Hgb A1c may be falsely low (measure glycated hemoglobin) 4) HPFH-6 gene in blood

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 647