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Diamond-Blackfan anemia 2(DBA2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: DBA2
Monarch Initiative: MONDO:0011636
OMIM®: 606129

Disease characteristics

Excerpted from the GeneReview: Diamond-Blackfan Anemia
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]
Colin Sieff   view full author information

Additional description

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).  http://www.omim.org/entry/606129

Professional guidelines


Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A
Am J Hematol 2018 May;93(5):672-682. Epub 2018 Feb 24 doi: 10.1002/ajh.25058. PMID: 29396846
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y
Clin Genet 2018 Feb;93(2):320-328. Epub 2017 Dec 27 doi: 10.1111/cge.13158. PMID: 29044489
Lipton JM, Ellis SR
Hematol Oncol Clin North Am 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004. PMID: 19327583Free PMC Article

Recent clinical studies


Kossiva L, Markande A, Vagianou F, Delaporta P, Kattamis A
J Pediatr Hematol Oncol 2021 May 1;43(4):e539-e542. doi: 10.1097/MPH.0000000000001767. PMID: 32118814

Clinical prediction guides

Kossiva L, Markande A, Vagianou F, Delaporta P, Kattamis A
J Pediatr Hematol Oncol 2021 May 1;43(4):e539-e542. doi: 10.1097/MPH.0000000000001767. PMID: 32118814

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