Diamond-blackfan anemia in pregnancy.

BACKGROUND: Diamond-Blackfan anemia is a rare form of congenital red-cell aplasia. Approximately 90% of the patients are diagnosed by 1 year of age. This report presents two pregnancies with good outcomes in a patient over a period of 1.5 years.

CASE: The patient, a 20-year-old woman, was diagnosed with Diamond-Blackfan anemia at age 3.5 months. Treatments consisted of red blood cell transfusions and oral corticosteroids. She conceived at age 18 years and delivered prematurely at 34 weeks' gestation. Her second pregnancy was diagnosed 4 months after delivery of the first child, and she delivered spontaneously at 38 weeks and 6 days' gestation. She received multiple blood transfusions during both of the pregnancies. The infants were average for gestational age and had normal examination at birth.

CONCLUSION: Based on this case and a review of the literature, it appears that pregnancy and birth control pills may contribute to the relapse of anemia in patients diagnosed with Diamond-Blackfan syndrome. This may require an increase in the frequency of blood transfusions. Pregnancies are usually tolerated well and can be managed with supportive therapy.