KINESIOL 1Y03 Chapter 19.14: Hereditary Spherocytosis
20 Sep 2017
School
Department
Course
Professor
Document Summary
Hereditary elliptocytosis abnormality in spectrin interaction with other membrane proteins autosomal dominant: 25-75% elliptocytes, hemolysis is usually mild treatment: splenectomy for severe hemolysis (immunize against pneumococcus, meningococcus, and hib first) Definition: deficiency in glucose-6-phosphate dehydrogenase (g6pd) leading to sensitivity of rbc to oxidative stress. Pathophysiology: x-linked recessive, more prevalent in black males, autosomal recessive, more prevalent in mediterranean population (rare) Clinical features: hemolysis precipitated by, prolonged, pathologic neonatal jaundice, chronic hemolytic anemia in autosomal recessive cases. Investigations: neonatal screening, high index of suspicion oxidative stress drugs (e. g. sulfonamide, antimalarials, nitrofurantoin) infection food (fava beans, g6pd assay, blood film should not be done in acute crisis when reticulocyte count is high. Heinz bodies (granules in rbcs due to oxidized hb that results in bite cells once features of intravascular hemolysis (e. g. rbc fragments) removed by the spleen) Treatment: transfusion in severe cases, stop offending drugs or food and avoid triggers.
