Hereditary dizeritropoetichesky anemias - Practical hematology of children's age

The term "dizeritrotsitopoez" designate abnormality in the ratio of processes of proliferation and maturing of erythroidal cells. Hereditary dizeritrotsitopoetichesky anemias — rather rare forms of a disease. Features of a marrowy hemopoiesis at dizeritrotsitopoetichesky anemia the following: 1. The expressed inefficient erythrocytopoiesis. 2. Sharp irritation of a red sprout at a small reticulocytosis, a ratio leukocytes/erythrocytes equally or less than 1:3. Intra marrowy hemolysis of erythroidal cells. 4. Existence of characteristic multinuclear forms of eritrokariotsit.
Hereditary dizeritrotsitopoetichesky anemias are followed by disturbance of an exchange of iron that can lead to development of a hemosiderosis, however, in rather easy form.
The N of Heimpel and F. Wendt (1968) subdivide dizeritrotsitopoetichesky anemia into three types differing on morphological features of cells of marrow and peripheral blood (tab. 40). Now other forms of hereditary dizeritrotsitopoetichesky anemias which not absolutely correspond to three types stated above (J. A. McBride, 1971 are described; E. Benjamin, 1975). Research of kinetics of erythron showed that at dizeritrotsitopoetichesky anemias of I and III types accumulation of cells in a late S-phase is noted, at the II type — accumulation in the phase Go of a cellular cycle.
Clinical signs of dizeritrotsitopoetichesky anemias arise usually at early age: the neonatality period, on the first year of life, in some cases — in later period — till 14 flyings. The clinical picture reminds that at hereditary hemolitic anemias — moderate pallor of skin, easy yellowness, an ikterichnost of scleras. Displastichnost signs are possible: high sky, tower skull, little finger curvature etc. Development of a hemosiderosis is followed by moderate increase in sizes of a liver and spleen.
In peripheral blood — anemia of easy degree or moderately severe. At the I type of dizeritrotsitopoetichesky anemia the macrocytosis, a polychromatophilia, basphilic inclusions in cytoplasm of erythrocytes, Cabot's rings are noted. At the II type anemia has normotsitarny character, the moderate hypochromia is possible. At the III type find symptoms of normokhromny anemia, tendency to a macrocytosis.

Table 40. Classification of hereditary dizeritrotsitopoetichesky anemias (N. Heimpel and F. Wendt, 1968)

At all types of dizeritrotsitopoetichesky anemia the quantity of reticulocytes of peripheral blood is moderately increased — to 2 — 4%. Quantity of leukocytes, a leykogramma, number of thrombocytes within normal amounts. Level of bilirubin is moderately increased at the expense of indirect. Content of iron in blood serum is also moderately increased. At research of marrow define the characteristic morphological features allowing to differentiate types of dizeritrotsitopoetichesky anemias. At the first type there are eritrokariotsita, on morphology similar to megaloblasts. Between the divided normocytes there are thin chromatinic bridges connecting kernels of cells. At the second type of anemia megaloblasts do not meet. Oxyphilic and polychromatophilous normocytes (40%) contain 2 kernels, and some and more. The karyorrhexis or pycnosis of kernels is expressed. Existence of the multinuclear huge eritrokariotsit containing 10 — 12 kernels is characteristic of the third type of dizeritrotsitopoetichesky anemia. The general signs are the hyperplasia of an erythroidal sprout of a blood formation, decrease in the relation leukocytes/erythrocytes to 1 and less.
Most often the second type of dizeritrotsitopoetichesky anemia which still carries the name HEMPAS (Hereditary Multinuclearity with a Positive Aciditied Serum-test — hereditary erythroidal multinucleosis with positive acid serumal test) meets.
Erythrocytes at the HEMPAS type are characterized by the raised lysis at an incubation with the acidified fresh serum of compatible blood of healthy people. J. N of Crookston and coauthors (1969) revealed on a surface of such erythrocytes antigen against which there are antibodies which are contained in serum of healthy people, but absent in the patient's serum. The submicroscopy showed that many erythroblasts, partially erythrocytes contain an unusual double membrane which, perhaps, has pathogenetic communication with cell division disturbance.
Differential diagnosis of dizeritrotsitopoetichesky anemias is difficult. Quite often sick make the diagnosis to hereditary hemolitic anemia. At dizeritrotsitopoetichesky anemia yellowness is less expressed and changeable. The indirect bilirubinemia is also insignificant. A certain parallelism between anemia degree, reaction of marrow and a reticulocytosis is characteristic of hemolitic processes.
At dizeritrotsitopoetichesky anemias of such pattern it is not observed. The hereditary hemolitic anemias proceeding with interstitial hemolysis are followed by more expressed splenomegaly.
In respect of differential diagnosis it is necessary to exclude hereditary not hemolitic hyperbilirubinemias (Gilbert's syndrome, Krigler — Nayara) at which jaundice as well as at dizeritrotsitopoetichesky anemias, is caused by an indirect bilirubinemia. At hereditary pathology of biliary system the spleen is not increased, in peripheral blood there is no anemia. The Cudgel — Johnson — the Rotor is characteristic of jaundice a direct bilirubinemia. Diagnosis is helped by research of a miyelogramma.
The correct statement of the diagnosis of dizeritropoetichesky anemia is possible on the basis of a complex assessment of clinical, morphological and serological criteria.
At the easy course of dizeritrotsitopoetichesky anemia treatment is not required. At the expressed hemolitic component and long increase in a spleen resort to a splenectomy which gives the incomplete, but expressed effect. In some cases big danger, than anemia, represents development of a hemosiderosis. In these situations treatment is carried out by desferal to similarly hereditary sideroakhrestichesky anemias. At dizeritrotsitopoetichesky anemias of a hemotransfusion are not shown as, on the one hand, they oppress an erythrocytopoiesis, with another — strengthen a hemosiderosis.