An afro-american kid of 6 years of age presented with abdominal pain, chronic hemolysis and abnormal RBC shape on peripheral smear. Most likely disorder responsible for this condition
Diagnosis here is sickle cell disease results from point mutation ,results in substitution of valine for glutamic acid at 6 position of beta globulin chain. Reference: GHAI Essential pediatrics, 8th edition
Trinucleotide repeat
Point mutation
Antibiodise against RBC membrane
Genetic imprinting
Hematology