Sickle cell anemia

Sickle cell disease
autosomal recessive inheritance
partially acceptable missense point mutation
polymerization of deoxy HbS causes sickle shape RBCs
glutamate is replaced by valine at 6th position of beta chain
C/F
pain
hemolytic anemia
jaundice
repeated infections
Lab diagnosis
Sickling test
Hb electrophoresis
HPLC
treatment
Hydroxyurea
blood transfusion
stem cell therapy
gene therapy