53. Dominant inheritance of congenital hypoplastic anemia

Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia.

An in vitro marrow culture assay designed to measure erythropoietic capability was used to ascertain the presence of an inhibitor in the sera of patients with congenital hypoplastic anemia (CHA). Marrow cells from nine anemic CHA patients responded to the stimulatory effect of exogenous erythropoietin (EPO) by an increase in heme synthesis in the presence of normal serum. The effect on heme syn...

Lymphocyte dysfunction in congenital hypoplastic anemia.

Congenital hypoplastic anemia (Diamond-Blackfan syndrome) is thought to involve the erythropoietic cell line alone. In this study, the evaluation of lymphocyte function in five patients with this syndrome revealed a number of abnormalities. Peripheral blood T lymphocyte percentages as assessed by monoclonal antibodies were decreased in three patients. T-helper/T-suppressor cell (OKT4:OKT8) rati...

Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi syndrome).

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...

Hypoplastic anemia due to atabrine.