Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features +++ Essentials of Diagnosis ++ Age: birth to 1 year Macrocytic anemia with reticulocytopenia Bone marrow with erythroid hypoplasia Short stature or congenital anomalies in one-third of patients +++ General Considerations ++ 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 +++ Clinical Findings +++ Symptoms and Signs ++ 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 +++ Differential Diagnosis ++ Transient erythroblastopenia of childhood Renal failure Hypothyroidism Anemia of chronic disease +++ Diagnosis ++ 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 +++ Treatment ++ 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 +++ Outcome +++ Prognosis ++ 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 +++ Reference + +Horos R, von Lindern M: Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. Br J Haematol 2012;159:514–527 [PubMed: 23016900] . Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.