Persistence of Fetal Hemoglobin Expression in an Older Child with Trisomy 13

A delayed fetal-to-adult hemoglobin switch occurs in infants with trisomy 13. The level of fetal hemoglobin (HbF) has been assessed in very few children with trisomy 13 surviving past infancy.¹ A 4-year-old female with trisomy 13 confirmed by karyotype and chromosomal microarray analysis was followed by our complex care service. The patient had developmental delay, a seizure disorder, frequent aspiration requiring gastrostomy tube placement and feedings, and recurrent urinary and respiratory tract infections. She had undergone repair of a cleft palate, umbilical hernia, and polydactyly. She was maintained on a medication regimen of omeprazole, nitrofurantoin, melatonin, and levetiracetam.