Induction of Fetal Hemoglobin in the Presence of Increased 3-Hydroxybutyric Acid Associated with β-Ketothiolase Deficiency

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Abstract
Elevated levels of fetal hemoglobin may diminish the severity of the β-hemoglobinopathies sickle cell disease and β-thalassemia. In β-thalassemia, this effect is related to a reduction in the overall imbalance in the ratio of α-globin and non-α-globin chains. In sickle cell anemia, an elevated level of fetal hemoglobin results in a reciprocal decrease in the intracellular concentration of hemoglobin S and inhibits polymer formation. The discovery that butyric acid is an inducer of fetal hemoglobin arose from the observation that the switch from hemoglobin F to hemoglobin A is delayed in infants of diabetic mothers. In these newborns elevated plasma concentrations of a labile analogue of butyric acid, α-amino-n-butyric acid, were reported1.