Erythroblastic Anemia

Abstract

Erythrobiastic anemia, Mediterranean anemia, thalassemia, or Cooley's anemia was separated by Cooley in 1927 from the group of anemias showing the von Jaksch syndrome, on the basis of its racial incidence. The disease is familial, occurring only in children of the races derived from the Mediterranean region, especially Greece and Italy. It is characterized by a slowly progressing anemia and by the presence of a large number of nucleated red cells. The extraordinary proliferation of erythroblastic tissue leads to changes in the bones, especially in the skull. Extreme pallor of the skin with an icteric tint may be the first sign, then a prominent abdomen from splenomegaly. These signs and symptoms may increase, and evidences of cardiac insufficiency may become manifest. Periods of unexplained fever may occur. Physical development may be retarded. A mongoloid appearance is the next condition that goes to make up the picture. There may be epicanthus and mild exophthalmos. The skull shows prominent frontal and parietal bosses; by contrast the sutures may appear depressed. The liver and lymph nodes are generally enlarged, great enlargement of the spleen is constant, frequently the heart is hypertrophied, and there may be a systolic murmur. In severe cases of long standing, myocardial damage may be demonstrated. Roentgen examination of the skeleton shows osteoporosis of the long bones with trabeculae standing out clearly. The cortex is thin. The medullary cavity is widened and transverse lines are conspicuous. In the skull the space between the tables is widened, and the outer table is reduced to such thinness as not to be visible on the roentgenogram. The trabeculae connecting the inner and outer tables give the appearance of “hair standing on end.” Blood studies usually show a low color index, marked anisocytosis and poikilocytosis, immaturity of red cells, increase in platelets and a polymorphonuclear leukocytosis with numerous immature cells. Reticulocytes are somewhat increased, constituting 5 to 20 per cent of the red cells. Fragility tests have shown a prolongation of the span of hemolysis, beginning at 0.50 to 0.54 per cent, complete at 0.30 to 0.20. According to Cooley and Lee, the red cells have certain specific characteristics. They tend to be large and to have an uneven distribution of hemoglobin. An abnormality of the stroma has also been described, which, however, may also be encountered in sickle-cell anemia. Increased blood destruction occurs but is not so marked as in sickle-cell anemia. The bilirubin content of the blood is increased, the Van den Bergh reaction is indirect. Whether a “latent” form of erythroblastic anemia exists remains a question. The course of the disease is progressive, but some patients may survive into adult life. At times there are periods of hyperpyrexia, without other evidence of infection. Death, however, is usually due to infection.