A 7-Day-Old African American Boy Is Being Evaluated in the Hospital

A 7-day-old African American boy is being evaluated in the hospital.  He was admitted yesterday due to sepsis after being brought to the emergency department with fever and vomiting.  The patient is receiving intravenous antibiotics, and blood cultures grew Escherichia coli.  He had been breastfeeding prior to admission, but feeds are being held due to vomiting.  The patient was born at term, and there were no complications during the pregnancy and delivery.  Temperature is 38.2 C (100.8 F) and pulse is 158/min.  Examination shows jaundice.  The liver is palpable 4 cm below the costal margin.  Laboratory results are as follows: Which of the following is the most likely cause for this patient's condition?

A) Inability to metabolize galactose to glucose
B) Inadequate NADPH production for oxidative injury protection
C) Loss-of-function mutation in the WAS gene
D) Mutation in proteins linking the red blood cell membrane to its cytoskeleton
E) Single amino acid substitution within the beta-globin chain

Correct Answer:

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