Bone-marrow microenvironment defect in congenital hypoplastic anemia.

An abnormal bone-marrow microenvironment has been thought to have an important role in the pathogenesis of aplastic and hypoplastic anemia in some patients, but direct evidence of such a defect has not been found. We have investigated the pathogenesis of chronic anemia in a young woman. Her bone-marrow cells, obtained by means of aspiration, showed exuberant erythroid growth in methylcellulose despite marked erythroid hypoplasia. The erythroid nature of the colony growth was further confirmed through measurement of heme synthesis and messenger RNA-globin accumulation in a liquid-culture system. In contrast, when whole bone fragments were similarly cultured, no appreciable hemoglobin synthesis was observed. The experimental evidence suggests that, in this patient, hypoplastic anemia resulted from an unfavorable microenvironment.