Diamond-Blackfan anemia (DBA) is a congenital anemia characterized by a low reticulocyte count, the absence or severe reduction of hemoglobin-containing cells in the bone marrow, and normal megakaryocytic and granulocytic differentiation. Although the anemia may initially respond to corticosteroid therapy, many patients require lifelong red blood cell (RBC) transfusion, leading to infectious complications and iron overload. Metoclopramide has recently been used to treat DBA. Treatment with metoclopramide induces the release of prolactin from the pituitary and stimulates erythropoiesis. For these reasons, we used metoclopramide to treat a 20-year-old man with DBA refractory to low and high doses of corticosteroids, cyclosporin A, and tacrolimus (FK506). The hemoglobin and hematocrit slowly increased, and he has remained asymptomatic and transfusion-independent for 8 months. Metoclopramide therapy should be considered in patients with refractory DBA before treatment-related complications develop.
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Article Synopsis
- Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome primarily diagnosed in children, characterized by severe anemia and potential congenital defects.
- Diagnosis of DBA involves identifying variants in ribosomal protein genes, but adults can also be diagnosed, sometimes years after being misclassified with other conditions like pure red cell aplasia.
- The article discusses three adult cases of DBA misdiagnosed as PRCA and reviews 16 additional cases, while also suggesting possible treatment options for affected individuals.
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
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Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, NIH, Rockville Bethesda Maryland USA.
Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.
Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).
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