Hereditary microspherocytosis

August 12, 2017 17:51 | Genetic Diseases

Hereditary microspherocytosis , known as Minkowski disease - Chauffard is transmitted in an autosomal dominant inheritance type.In this form of anemia is a change shape and shortening life expectancy of erythrocytes.In this case red blood cells take the form of microspherocytes.The disease is described over 100 years ago.At the end of the XIX century.set the type of inheritance of the disease.The disease is widespread in various European countries, a frequency of 1 per 5000 population.Much less often the disease occurs in Japan and Africa.In most cases, one parent can not detect microspherocytosis.Sometimes a child's disease is difficult, as the father or mother's illness is detected only after the examination of blood smears.However, 20-25% of parents of children with microspherocytosis most thorough analysis did not reveal any signs of disease.

The basis of irregularities in the structure of the membrane is microspherocytosis defect of erythrocytes (red blood cells).It was found that mice with a gene

tic microspherocytosis no special protein erythrocyte membrane - spectrin.Changes in the structure of this protein leads to increased permeability of the membrane of red blood cells and red blood cells in a flow of excess sodium ions.Sodium ions, in turn, are osmotically active, ie. e. "pull" for a water.This leads to excessive accumulation inside its erythrocytes.The spherical shape of red blood cells, and particularly the structure of the protein spectrin disrupt the ability of red blood cells become deformed in narrow areas of blood flow, such as the small capillaries of the spleen.

ability of the spleen to destroy the red blood cells is associated with the originality of the splenic circulation.When passing through the narrow capillaries of the spleen diseased red blood cells can not be deformed.This leads to delayed their progress and stagnation in the splenic cords.Ultimately, each red blood cell passes through a narrow capillary, but can lose some of its surface.When microspherocytosis loss of the membrane and the cell surface leads to a gradual decrease in red blood cell.For the destruction you need to erythrocyte again got into a narrow capillary spleen.Several of these revolutions lead to red blood cell destruction.

As with many other forms of hereditary hemolytic anemia, with microspherocytosis the disintegration of red blood cells.This causes the appearance of the characteristic signs of the disease: jaundice, enlarged spleen size, expressed in varying degrees of anemia, a tendency to form stones in the gall bladder, the morphological changes of erythrocytes, reticulocytosis (increase in the blood reticulocyte count, is a young, still immature forms of erythrocytes, increasedthe formation of which occurs in the bone marrow with a quick and abundant destruction of red blood cells to restore their numbers in the blood - the mechanism of excessive loss of red blood cells compensation).

most severe microspherocytosis appear in adolescence or in adults and in children it is found when examined family.If a child has a disease marked manifestations, there may be various skeletal deformities, especially of the skull.In people with the disease can be seen square tower skull, eyes reduced dimensions, high sky, changing the location of the teeth.Some people are short little fingers.These symptoms occur in other forms of hereditary hemolytic anemias.

Enlargement of the spleen (from mild to severe) is very characteristic microspherocytosis.In most cases, uncomplicated microspherocytosis does not increase the liver.The vast majority of people suffering from this disease, there are pains in the right upper quadrant, which is associated with the formation of stones in the gall bladder and biliary tract.This is one of the most frequent complications microspherocytosis.Education stones due to the high content of bilirubin in the bile.Stones often bilirubin, but there are also mixed, which contain cholesterol.A relatively rare complication microspherocytosis - leg sores.

severity of anemia in microspherocytosis different, although in most cases it is small.hemoglobin content is usually 90-100 g / l, in exacerbation decreases to 40-50 g / l, especially in young children.Hemolytic crises in microspherocytosis often triggered by an infectious disease.In blood smears when viewed under an electron microscope they determine the characteristic shape of red blood cells - spherocytes.The content of reticulocytes (young RBCs forms) for microspherocytosis may vary, depending on severity of disease, the time of examination, and usually does not exceed 10%.However, there are cases where the number of reticulocytes increased to 50-60% (after exacerbation).

level of bilirubin in the blood at microspherocytosis depends on the severity of the disease and the survey period.Without exacerbation of bilirubin content can be in the normal range, in the period of exacerbation increases greatly.

Many people with long microspherocytosis diagnosed with chronic hepatitis or cirrhosis of the liver, and anemia is considered a consequence of these diseases.In all cases, jaundice with an increase in spleen requires a thorough examination of the patient, regardless of the level of hemoglobin.

treatment. microspherocytosis main method of treatment is the removal of the spleen.When microspherocytosis dramatically shortened the duration of the life of red blood cells.The destruction of blood cells occurs mainly in the spleen.The indication for removal of the spleen when microspherocytosis are constant or occur as exacerbations of anemia, a significant increase in serum bilirubin, even without anemia, the appearance of pain in the right upper quadrant, the lag in the development of children.After removal of the spleen in virtually all persons suffering microspherocytosis, normalizes the general condition and the level of hemoglobin in the blood.Bilirubin level and content of young forms of erythrocytes are reduced significantly.

most serious, although rare postoperative complications unrelated to the operation technique are pulmonary thrombosis and intestinal blood vessels.Increasing the platelet count (white blood cells) in the postoperative period above 700-800 X 109 / L requires supplementation, can reduce the "bonding" platelets, resulting in vascular occlusion (e.g., Curantylum).Also the use of appropriate formulation such as heparin by injection in the abdominal skin.This drug also prevents blood clotting and thrombus formation, covering the lumen of blood vessels.

In identifying microspherocytosis in pregnant women with moderate anemia and peaceful course of the disease can save the pregnancy and not to resort to caesarean section.Subsequently, these women, if there is a need, splenectomy performed.

prognosis for life is always good with timely removal of the spleen.