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
Негізгі бет Sickle cell anemia
Пікірлер: 73