Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia

Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia.

A 31-yr-old female with congenital hypoplastic anemia (Diamond-Blackfan syndrome) whose long course terminated in acute myelogenous leukemia is described. In contrast to Fanconi anemia, malignant transformation rarely occurs in congenital hypoplastic anemia. This patient's diagnosis of congenital hypoplastic anemia is supported by her clinical course, absence of renal abnormalities, a negative ...

Hypereosinophilic syndrome terminating in acute myelogenous leukemia.

Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report.

Congenital hypoplastic anemia is a rare disease characterized by a normochromic, normocytic anemia, a deficiency of erythroblasts in the marrow, and normal leukocyte and platelet counts. The disease usually is treated successfully with corticosteroid therapy; however, some patients become refractory to corticosteroids and must receive washed, packed red blood cell transfusions. The management a...

Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia.

To explore the etiology of congenital hypoplastic or Diamond-Blackfan anemia (DBA) we investigated in vitro erythropoiesis in nine patients. Of the nine, seven were clinically responsive to prednisone. Four were infants evaluated at the time of diagnosis. Six were never or were only minimally transfused. Those for whom prednisone had been prescribed had discontinued the drug a minimum of five m...

Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...