Autosomal dominantly inherited diamond-blackfan anemia resulting in nonimmune hydrops

Background: Autosomal dominant inheritance of Diamond-Blackfan syndrome has been considered an uncommon occurrence. The onset of anemia is characteristically within the first year of life, with 10% of cases presenting at birth. Hydrops fetalis has been reported rarely. Cases: Two women with Diamond-Blackfan anemia had uncomplicated pregnancies without important exacerbation of their anemia. Each delivered an edematous infant affected with Diamond-Blackfan anemia, both of whom required immediate transfusions. One infant is currently 7 years old with transfusion-dependent Diamond-Blackfan anemia. The second infant died 2 days after birth; autopsy showed severe erythroid hypoplasia with absence of extramedullary hematopoiesis and placental villous edema. Conclusion: Diamond-Blackfan anemia may result in severe fetal anemia requiring transfusion. Among women with this disorder, a greater percentage than previously suspected are at risk for having an infant with substantial anemia in both the fetal and perinatal periods. Because the penetrance of the disorder is variable, pregnant women with a history of Diamond-Blackfan anemia should be considered at risk.