Hemoglobinopathies in pregnancy Quiz: Ace Your Exams

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A 29-year-old woman, gravida 2, para 1, presents for the first prenatal appointment at 8 weeks of gestational age. She has no bleeding, cramping, or abnormal discharge. Past medical history is notable for one prior uncomplicated spontaneous vaginal delivery. Vital signs are within normal limits, and the physical exam is unremarkable. Routine first trimester laboratory studies suggest a hemoglobinopathy, and follow-up genetic testing shows one mutated beta-globin gene and one deleted beta-globin gene. Which of the following is the most likely diagnosis?

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Hemoglobin H disease

Beta-thalassemia intermedia

Cooley anemia

Beta-thalassemia minor

Barts disease