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Diamond-Blackfan anemia 19(DBA19)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: DBA19
Gene (location): RPL35 (9q33.3)
Monarch Initiative: MONDO:0032669
OMIM®: 618312

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

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Erythroid hypoplasia
MedGen UID:
Concept ID:
Disease or Syndrome
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Steroid-responsive anemia
MedGen UID:
Concept ID:
Disease or Syndrome
Amelioration of anemia upon treatment with a steroid medication.

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