hemoglobinopathies

Question 1

what causes HbS?

Answer 1

single point mutation that cuauses a substitution of valine for glutamic acid at the 6th position of the beta globin gene

Question 2

what is a gardos channel blocker and what role does it have in sickle cell disease treatment?

Answer 2

calcium dependent potassium channels that facilitate K+ and water efflux - blocking them with Gardos channel blockers prevents erythrocyte dehydration and decreases polimerization of HbS