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Pediatrics Hematology 1407e052

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
High-Yield Explanation
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

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