Erythroid colony growth in congenital hypoplastic anemia.

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 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...

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...

Congenital (erythroid) hypoplastic anaemia: modified expression in males.

Intractable anaemia beginning soon after birth or in the first few months of life, and due to a hypoplastic state of the bone-marrow, is rare. As case reports have accumulated, it has become clear that this rather broad description includes a variety of syndromes. One of these, first described briefly by Josephs (1938) and Diamond and Blackfan (1938), has come to be recognized as a clearlydefin...

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