Diamond–Blackfan Anemia (DBA) Practice Flashcards

A set of vocabulary flashcards covering the etiology, clinical features, diagnosis, and management of Diamond–Blackfan anemia (DBA) for pediatric medical students.

Diamond–Blackfan anemia (DBA)

A rare congenital pure red cell aplasia characterized by failure of erythropoiesis, severe macrocytic anemia in infancy, normal WBC and platelet counts, and associated congenital anomalies.

Ribosomopathy

A classification for Diamond–Blackfan anemia indicating it is caused by defects in ribosomal protein genes, leading to impaired ribosome synthesis and increased apoptosis of erythroid progenitor cells.

RPS19 mutation

The most common genetic mutation found in Diamond–Blackfan anemia cases, usually following an autosomal dominant inheritance pattern.

Age of Presentation for DBA

Usually occurs before 1 year of age, with most patients diagnosed within the first 6 months of life.

Congenital Upper Limb Anomalies in DBA

Includes triphalangeal thumb, hypoplastic thumb, or absent thumb; these anomalies occur in approximately 50% of patients.

Bone Marrow Examination Findings in DBA

A marked reduction or absence of erythroid precursors with normal granulopoiesis and normal megakaryocytes.

Reticulocyte Count in DBA

Typically markedly reduced, consistent with the failure of red cell production.

Biochemical Markers of DBA

Includes increased fetal hemoglobin ($HbF$) and increased erythrocyte adenosine deaminase ($eADA$).

Classical Diagnostic Criteria for DBA

Age < 1 year, macrocytic anemia, reticulocytopenia, normal WBC and platelets, and bone marrow showing erythroid hypoplasia.

Transient erythroblastopenia of childhood (TEC)

A key differential diagnosis for DBA that occurs in older children (1–4 years), is typically acquired, and presents with normal $MCV$ and normal $HbF$.

Prednisolone

The first-line corticosteroid treatment used to improve erythropoiesis in many Diamond–Blackfan anemia patients.

Iron Chelation Therapy in DBA

The use of agents such as Deferasirox or Deferoxamine to manage iron overload resulting from repeated blood transfusions.

Hematopoietic Stem Cell Transplantation (HSCT)

The only definitive cure for Diamond–Blackfan anemia, typically preferred for patients who are transfusion-dependent.

Malignancy Risk in DBA

Increased risk of developing Acute Myeloid Leukemia ($AML$), Myelodysplastic Syndrome ($MDS$), and osteogenic sarcoma.

DIAMOND Mnemonic

D – Defective ribosomes; I – Infantile onset; A – Absent erythroid precursors; M – Macrocytic anemia; O – Often thumb anomalies; N – Normal WBC & platelets; D – Dominant inheritance.