A 12-year-old girl of Hispanic descent enters the emergency department with severe pain on the left side of her abdomen.The family has recently immigrated to the United States.First attempts at pain relief with nonnarcotic drugs are unsuccessful.Opioids are needed to suppress the pain.Her laboratory results show that she is anemic and her parents reveal a history of chronic infections and a stroke.Genetic testing reveals that her hemoglobin gene has a single amino acid substitution of valine for glutamic acid.Her primary diagnosis is:

Question

Quizplus · Accepted Answer

The girl's symptoms, history of chronic infections and stroke, anemia, and genetic testing all suggest sickle cell disease, a disorder in which the hemoglobin protein has a valine substitution for glutamic acid, leading to abnormal blood cell shapes and potential blockages in blood vessels, causing severe pain as well as increased risk for infections and strokes. The other options are less likely to be the cause of her symptoms based on the given information.

A 12-Year-Old Girl of Hispanic Descent Enters the Emergency Department