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: (A) Trinucleotide repeat, (B) Point mutation, (C) Antibiodise against RBC membrane, (D) Genetic imprinting
Answer is B. 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