Microspherocytic hemolitic anemia (Minkowski's illness — Shoffara) — the hereditary disease caused by defect of proteins of a membrane of the erythrocytes gaining spherical shape with the subsequent their destruction by macrophages of a spleen.
Epidemiology The illness is eurysynusic in Europe, to a lesser extent — on the African continent, in Japan and other countries, quite often meets in our country. It is shown at any age, a thicket in children's and teenage, occurs at close relatives of the patient. There is an asymptomatic carriage of a gene of a microspherocytosis.
Etiology and pathogeny Microspherocytic hemolitic anemia is inherited on autosomal dominantly type, generally heterozygous form of a disease meets. The pathogeny is connected with defect of proteins of a membrane of erythrocytes that is followed by the increased its permeability with receipt of excess quantity of ions of sodium in cells. It promotes to accumulation in a water cell owing to what erythrocytes are deformed, gain spherical shape. At a certain level of changes in structure of a membrane of erythrocytes microspherocytes are exposed to intracellular destruction by macrophages of a spleen that is connected with a peculiar blood circulation in it.
Classification Allocate forms of hereditary microspherocytic hemolitic anemia in the teenage period and at adults. The disease is diagnosed for children when inspect families of probands. Seldom the option of the microspherocytic anemia proceeding with aplastic (aregeneratorny) crises meets.
Approximate formulation of the diagnosis: Hereditary microspherocytic hemolitic anemia with increase in a spleen, pigmental stones in a gall bladder, the periodic darkening of urine expressed by a microspherocytosis of erythrocytes, a reticulocytosis leucio-and the thrombocytopenia moderated by erythroblastic reaction of marrow, increase in free fraction of bilirubin of blood serum.
Clinic Patients note the general weakness, fast fatigue, dizziness, noise in the head, an asthma and heartbeat at exercise stresses, yellowness of skin and scleras, pains in left (in the presence of a splenomegaly) and in right hypochondrium (at formation of pigmental stones in a gall bladder and in zhelchevyvodyashchy ways, it is rare — at increase in a liver), periodic darkening of urine, trophic shin ulcers, tendency to development of thromboses, skin changes like pigmentation, eczemas, hemangiomas, etc. If the disease since the childhood proceeds with the expressed clinical symptomatology, deformations of a skeleton, especially skull bones are observed.
Anemia normokhromny in most cases moderated (hemoglobin of 90 — 100 g/l, at frequent and deep hemolitic crises it is more expressed (hemoglobin of 40 — 50 g/l), sometimes the disease during the long period proceeds without anemia against a small reticulocytosis and moderately expressed erythroblastic reaction of marrow.
Important sign is the microspherocytosis of erythrocytes. Average diameter them happens less than 6,3 microns, average volume normal, average thickness is considerably increased (more than 2,1 microns). The spherocytic index (the relation between diameter and thickness of an erythrocyte) is always lowered on average to 2,7 (instead of 3,4 — 3,9 normal). In the period of hemolitic crises the free fraction of bilirubin of blood serum considerably increases. Life expectancy of erythrocytes, marked Cr, is reduced almost twice in comparison with norm. Their sequestration occurs mainly in a spleen.
The method acid eritrogramm reveals characteristic changes inherent in this illness — sharp lengthening of time of hemolysis, shift of its maximum to the right. Washing of erythrocytes from plasma sharply accelerates hemolysis.
At hemolitic crises the small leukocytosis with shift of a formula is observed to the left sometimes, at the phenomena of a hypersplenism the moderate leukopenia and thrombocytopenia are possible. The quantity of reticulocytes usually within 5 — 10%, hemolitic crisis is followed by increase in contents them several times. In marrow the erythroblastic sprout is sharply increased or even also normoblasts prevail eritro-. Sometimes after hemolitic crisis at decrease in level of folic acid and B12 vitamin megaloblasts are found.
The coming to light parallelism between a spherocytosis of erythrocytes and lowering of their osmotic resistance, and also increase of an autogemoliz, korrigiruyemy glucose, is not strictly specific to hereditary microspherocytic hemolitic anemia.
Verification of the diagnosis At verification of the diagnosis it is necessary to consider its characteristic kliniko-hematologic signs. At the same time the microspherocytosis often meets at autoimmune hemolitic anemias, sometimes — at hereditary dizeritropoetichesky anemias. As for deformation of a skeleton, especially skulls, these changes are observed also at other forms of hereditary hemolitic anemias. Lowering of osmotic resistance of erythrocytes and increase of an autogemoliz, korrigiruyemy glucose, can meet at the autoimmune hemolitic anemias and hereditary hemolitic anemias caused by a lack of enzymes of erythrocytes.
Treatment At the hereditary microspherocytosis proceeding with the frequent and expressed hemolitic crises the splenectomy leading to clinical recovery is most effective; though the microcythemia and a spherocytosis remain, but extent of hemolysis considerably decreases. At the compensated disease, especially at children of early and younger age, it is reasonable to abstain from removal of a spleen.
In the presence of hard proceeding cholelithiasis along with a splenectomy the issue of indications to a cholecystectomia or to opening and drainage of the general bilious channel is resolved. From haemo therapeutic means use transfusions of the washed or defrozen erythrocytes, when developing thromboses anticoagulants are appointed.
The forecast is favorable, however lethal outcomes are possible (infections, fibrinferments, are more rare — heavy hemolitic crises).