Type I Congenital Dyserythropoietic Anaemia with Myelopoietic Abnormalities and Hand Malformations

Abstract

Type I dyserythropoietic anemia was diagnosed in a [human] infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anemia became manifested during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myolopoietic series indicate that it might be a stem cell disease, and the presence of skeletal anomalies of the hands suggested a genetic relationship to some cases of Fanconi and Diamond anemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anemia despite no transfusion load.