An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait

Summary A child is described who suffered from a severe congenital anemia. The anemia persisted and a regular transfusional regimen became necessary. Bone marrow aspirates showed an erythroblastic hyperplasia associated with some dyserythropoietic features. A most striking and constant finding was the presence of many intererythroblastic chromatin bridges. The reticulocyte count was always low, in spite of the increased erythropoietic activity. A beta-thalassemia trait inherited from the mother was demonstrated. The hypothesis of dyserythropoiesis/thalassemia syndrome was put forward, based on the assumption that the two genes may have interacted with each other.