Anemia

Anemia-Chauffard Minkowski: hereditary spherocytosis, children, hemolytic, microspherocytic

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Anemia-Chauffard Minkowski is a hereditary disease in which the registered mass mortality of red blood cells. Feature of Pathology performs enhanced production of red blood cells by the bone marrow due to their rapid destruction.

kind of anemia

Causes

The disease develops in the formation of pathological changes in the structure of red blood cells. As soon as the blood cell walls lose their natural strength, they lose their ability to retain and hemoglobin. When anemia is registered and changing the shape of blood cells, which does not allow them to penetrate into the small blood vessels. When you try to fulfill his destiny erythrocyte destroyed.

The pathology associated with DNA in violation of the impact of negative factors during fetal development of the child, but in most cases the cause is hereditary spherocytosis. Provoke mutation fetal genes capable of:

  • Irradiation pregnant radioactive and X-rays.
  • Severe viral disease, suffered by women during childbearing.
  • Intoxication pregnant nicotine, narcotics or salts of heavy metals.
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Inheritance disease occurs in an autosomal dominant trait.

symptoms

Signs of disease occur gradually as reducing the level of erythrocytes. The earlier the disease manifests itself, the harder its symptoms. Hereditary spherocytosis in most cases detected in school-age children. For pathology characteristic undulating course, wherein the hemolytic crisis followed by a period of remission. After the crisis the patient's condition is gradually recovering, he complains only about the excessive pallor.

If hemolytic crisis signs of anemia are the most pronounced, killed a large number of red blood cells. Some of the symptoms include:

  • Yellowness of the skin. Changing the color persists for a long time after crisis. The intensity of the yellow color of the skin depends on the death rate of blood cells.
  • Increasing the size of the spleen. The patient may complain of heaviness in the region of the ribs on the left side.
  • Increased liver. Long duration of the disease provokes violation of this body, which affects the change in its size. In uncomplicated hemolysis liver is not increased.
  • Development of trophic ulcers in the leg. The pathology occurs in adult patients when gluing red blood cells in small blood vessels of the lower extremities.
  • Disturbances of the skull bones. Registered only in the development of the disease in young children.
enlargement of the liver

On the development of hemolytic crisis prevents the occurrence of such changes in the body, such as:

  • pronounced yellowness of the skin;
  • temperature rise;
  • general lethargy, drowsiness;
  • convulsions;
  • nausea, vomiting, pain in the abdomen;
  • pronounced itching.

The frequency of occurrence of crises depends on many factors. Provoke deterioration of patient's condition can infectious disease, hypothermia. In some cases, remission can last up to several years.

Diagnostics

Hereditary spherocytosis may be suspected in a patient with yellow skin. The attending physician is necessary to palpate the abdomen to determine the presence of increasing liver or spleen. In addition, a patient survey conducted to clarify the list of complaints, to find out the presence of anemia in close relatives. In order to confirm the initial diagnosis of the patient is sent for examination, including the surrender of laboratory and instrumental examination.

In laboratory conditions:

  • Blood analysis. In the pathology detected elevated bilirubin, urobilin due to lower concentration of cholesterol.
  • Clinical blood test. Identify changes erythrocyte size decrease leukocyte concentration. Evaluation of the color indicator shows that it is lower than normal.
Clinical blood test

In addition, two-dimensional electrophoresis method is used, allowing to investigate membrane protein in blood cells. Confirm the change of internal organs sizes allows abdominal ultrasound.

Microspherocytic anemia must be differentiated from autoimmune diseases, so it is recommended to study the family history and perform Coombs.

Treatment

Therapy is prescribed only after the confirmation of the diagnosis of hereditary spherocytosis. Treatment long, its effectiveness depends on the pathology severity, the general state of the patient. In mild disease therapy administered the patient, allowing to eliminate the deficiency of iron and folic acid. The patient is recommended to vary the diet of meals containing carrots, tomatoes, cheese, nuts.

A severe form of the disease requires medical treatment in a hospital. Particular caution should be exercised in the appointment of treatment in elderly patients due to the risk of aregeneratornogo crisis that could end the patient's death.

With the ineffectiveness of conservative techniques performed an operation to remove the spleen. Within 48 hours after splenectomy laboratory studies confirm the normalization of blood levels of hemoglobin and red blood cells, restores the natural skin tone. To prevent the development of irreversible changes in the liver and spleen surgery and prescribed for children older than 4 years.

Be in hospital

Treatment of women during pregnancy requires receiving immunoglobulin transfusions. Pregnant you should regularly take a blood sample to the attending physician had the opportunity to timely adjustments to the therapeutic course, ensuring the health and safety for the future mother and fetus.

complications

hemolytic anemiaThat arose in early childhood can cause mental retardation, physical weakness. In adult patients, due to the increase of free bilirubin concentrations may develop cholelithiasis, cholecystitis.

In the absence of adequate treatment for severe disease may develop cirrhosis. Hemolytic crisis can sometimes be mistaken for obstructive jaundice, which excludes the possibility of appropriate treatment. In this case, the risk of cerebral edema repeatedly raises. The disease can provoke and chronic leukemia.

prevention

Hereditary spherocytosis not be completely cured, therapeutic interventions aimed at maximum extension of the period of remission. Patients should be regularly examined by a hematologist. In the mild form of the disease control blood analysis is performed 1 time in 6 months. Every year, the patient is advised to take drugs that keep the trace elements in the normal preservation of functional activity of the red blood cells.

Children who have one parent suffers from anemia-Chauffard Minkowski, should be examined immediately after birth. They put on the account, regularly conducts surveys to assess the status change.

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