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Congenital hypoplastic anemia manifesting in the first year of life. Increased risk for leukemia.

Blackfan-Diamond Syndrome

Seven-month-old boy with Blackfan-Diamond syndrome has anomalies of the ear and a short neck because of fusion of the cervical vertebrae.

Diamond-Blackfan Anemia; Congenital Hypoplastic Anemia; Congenital Pure Red Cell Anemia/ Aplasia; Chronic Congenital Aregenerative Anemia; Chronic Erythroblastopenia; Constitutional Erythroid Hypoplasia; Erythrogenesis Imperfecta; Estren-Dameshek Variant of Fanconi Anemia.

First described in 1938 by the two American pediatricians Kenneth Daniel Blackfan and Louis Klein Diamond.

Several hundred cases have been reported in the literature. Annual incidence is approximately 5:1,000,000 live births.

Most often autosomal dominant, but autosomal recessive transmission with normal chromosomes has been described (parental consanguinity is a risk factor). Approximately 25% of cases can be linked to a mutation of the ribosomal protein S19 (RBS19) with gene map locus 19q13.3. The function of this protein has not been elucidated.

Uncertain, but may be secondary to a defect of pluripotent stem cell differentiation into erythroid progenitor cells (response to erythropoietin may be altered).

Typically, the initial signs are pallor and dyspnea during breast-feeding or bottle feeding. Diagnosis usually is made by 6 months of age (70-90% of patients present by the first 3 months of life, but only 13% are anemic at birth): severe macrocytic anemia, high hemoglobin F levels for patient's age, reticulocytopenia (usually <1%), normal white cell count, and normal-to-elevated platelets. As a consequence of complete cessation of erythropoiesis, many patients do not have an elevated mean corpuscular volume initially. However, these patients become macrocytic once recovery of erythropoiesis occurs. Bone marrow aspiration shows decreased erythroid precursors with less than 5% of nucleated cells being erythroblasts. Hepatosplenomegaly may occur in up to 40% of affected children and, because it is reversible after transfusion, it most likely reflects heart failure. Although not pathognomonic, increased levels of erythrocyte adenosine deaminase can frequently be detected. Serum and urine erythropoietin levels are elevated. Approximately 67% of patients respond initially to steroids and approximately 40% require regular transfusions. Allogenic bone marrow transplant may be a therapeutic option for steroid-resistant patients but remains controversial because the disease is not malignant and secondary response of these patients to steroids is well known.

Congenital hypoplastic anemia. Relapse is often associated with infections. Patients may be transfusion dependent from time of diagnosis if they are resistant to steroids or become secondarily transfusion dependent once steroid resistance develops. Chelation therapy with deferoxamine is often required with chronic transfusions. Associated anomalies with this disease occur in approximately 40% of patients and may include growth retardation, facial abnormalities (microcephaly or macrocephaly, wide fontanelle, micrognathia, arched or cleft palate, macroglossia, thickening of the upper lip), ocular abnormalities (microphthalmos, strabismus, hypertelorism, epicanthal folds, blue sclerae, cataracts, glaucoma), thumb abnormalities (absent, bifid, ...

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