Medical treatment hemoglobinopathy

Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the treatment of these diseases able to stimulate HbF production. Patients’ response is highly variable indicating the utility of the identification of pharmacogenomic biomarkers in order to predict pharmacological treatment efficacy.

In sickle cell disease, the beneficial effects of HbF are the inhibition of sickle Hb (HbS) polymerization, and dilution of the HbS concentration in the red blood cells. While in β-thalassemia, y-globin chains can substitute for β-globin chains and prevent the excess of a-globin chains from damaging the red blood cells membrane (Selena Sclafani 2016).

Hydroxyurea works primarily by increasing the level of fetal hemoglobin (HbF), which does not sickle. This improves several clinical outcomes, such as decreasing the frequency of VOCs and ACS, reducing mortality, and decreasing the need for RBC transfusions and hospitalizations. Hydroxyurea is rapidly absorbed, has nearly complete bioavailability, and requires only once-daily oral dosing.