Treatment may involve blood transfusions in the first year of life to treat anemia.
A steroid medication called prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with stillbirth or early death.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005.
Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul 25]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle, Wa: University of Washington, Seattle; 1993-2013. Accessed Sept. 8, 2013.
Vlachos A, Ball S, Dahl N, et. al. Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference. Br J Haematol. September 2008: 142(6): 859–876. Accessed Sept. 8, 2013.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.