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Key Features

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Essentials of Diagnosis
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  • Age: birth to 1 year

  • Macrocytic anemia with reticulocytopenia

  • Bone marrow with erythroid hypoplasia

  • Short stature or congenital anomalies in one-third of patients

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General Considerations
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  • Relatively rare cause of anemia that usually presents at 2–3 months of age

  • Mutations of genes encoding ribosomal proteins occurring with autosomal dominance have been recognized

  • Early diagnosis is important because treatment with corticosteroids results in increased erythropoiesis in 80% of patients, thus avoiding the difficulties and complications of long-term transfusion therapy

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Clinical Findings

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Symptoms and Signs
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  • Similar to those of chronic anemia, such as pallor and heart failure

  • Jaundice, splenomegaly, or other evidence of hemolysis are usually absent

  • Short stature or other congenital anomalies are present in 50% of patients

  • Craniofacial abnormalities and triphalangeal thumbs are most common anomalies

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Differential Diagnosis
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  • Transient erythroblastopenia of childhood

  • Renal failure

  • Hypothyroidism

  • Anemia of chronic disease

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Diagnosis

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  • Characterized by severe macrocytic anemia and marked reticulocytopenia

  • Neutrophil count is usually normal or slightly decreased

  • Bone marrow usually shows a marked decrease in erythroid precursors

  • In older children, fetal hemoglobin levels are usually increased and there is evidence of persistent fetal erythropoiesis, such as the presence of the i antigen on erythrocytes

  • Level of adenosine deaminase in erythrocytes is elevated

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Treatment

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  • Oral corticosteroids should be initiated at the time of diagnosis

  • Eight percent of patients respond to prednisone, 2 mg/kg/d, and many who respond subsequently tolerate significant tapering of the dose

  • Patients who are unresponsive to prednisone require long-term transfusion therapy, which inevitably causes transfusion-induced hemosiderosis and the need for chelation

  • Bone marrow transplant is an alternative definitive therapy that should be considered for transfusion-dependent patients who have HLA-identical siblings

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Outcome

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Prognosis
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  • Good for patients responsive to corticosteroids, particularly if remission is maintained with low doses of alternate-day prednisone

  • Patients dependent on transfusion are at risk for the complications of hemosiderosis

  • There is an increased risk for the development of solid tumors

  • Unpredictable spontaneous remissions occur in up to 20% of patients

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Reference

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Horos  R, von Lindern  M: Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. Br J Haematol 2012;159:514–527
[PubMed: 23016900]

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