An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait.
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 inter-erythroblastic 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.
Sansone
G
G
Centro Microcitemia Galliera Hospital, Genoa, Italy.
Lupi
L
L
D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000473:pathology / Q000628:therapy; D001803:Blood Transfusion; D001853:Bone Marrow / Q000473:pathology; D002843:Chromatin / Q000473:pathology; D004900:Erythroblasts / Q000648:ultrastructure; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D008297:Male; D013156:Splenectomy; D013789:Thalassemia / Q000150:complications* / Q000473:pathology / Q000628:therapy
D002843:Chromatin