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Anemia is characterized by a decrease in the level of hemoglobin in the blood. This disease is widespread. It affects people of all ages. Anemia is often diagnosed in childhood.
Anemia is not just one disease. There are many types of pathology. The most common cause of anemia are dietary errors, when the human body is deficient in vitamins and nutrients. This condition can be eliminated with the help of medical correction, however, you first need to clarify the cause of its development.
Minkowski-Choffard hemolytic anemia is a serious pathology. It poses a danger to human health and life. It is this type of anemia that will be discussed further.
Anemia – what is it?
Anemia is characterized by a decrease in the level of red blood cells and hemoglobin in the blood. In some cases, not only the numerical composition of erythrocytes falls below the norm, but also their shape changes. As the disease progresses, red blood cells are unable to perform their functions.
Anemia develops against the background of other disorders in the body; it does not manifest itself by itself. Therefore, in order to get rid of the disease, it is necessary to establish the cause that led to the change in the composition of the blood.
What is the hallmark of hemolytic anemia?
Hemolytic anemia combines several diseases at once, but the reasons for their development are the same. Red blood cells in the blood are destroyed too quickly, so the red bone marrow begins to intensively produce them. As a result, their growth cycle is disrupted. As anemia progresses, red blood cells undergo massive death.
Hemolytic anemias can be passed from parents to children, or they can develop throughout life. Minkowski-Choffard anemia is a hereditary pathology.
This disease is also called microspherocytic anemia and hereditary spherocytosis. However, the term “Minkowski-Choffard anemia” is most often used after the scientists who first discovered this pathology.
This type of anemia cannot be called rare, it affects every 5000th inhabitant of the planet. Most often, people living in Northern Europe suffer from it. For the first time, Minkowski-Choffard anemia makes itself felt in childhood. If this disorder is left untreated, the body as a whole will suffer.
Causes of Minkowski-Choffard anemia
With Minkowski-Choffard anemia, the structure of erythrocytes undergoes pathological changes, which affects their functioning. Red blood cells become brittle and break down much more easily. They release hemoglobin, which circulates in the blood in free form.
If normally, red blood cells have the shape of a biconvex disk, then with Minkowski-Choffard anemia, they become round, which prevents them from penetrating into small blood vessels. When you try to do this, red blood cells are severely damaged and destroyed. Their level in the blood decreases, which causes the development of anemia.
If one of the parents suffered from Minkowski-Choffard anemia, then this disease will be inherited by the child. Rarely sick children are born from absolutely healthy parents. If this happens, then experts call damage to the DNA structure the cause. Genes mutate while the baby is in the womb of a woman.
Pathogenic factors are:
Exposure to a woman’s body of radioactive or x-ray radiation.
Poisoning the body of a pregnant woman with salts of heavy metals, drugs, tobacco smoke.
Transferred viral diseases.
It should be taken into account that these pathogenic factors can provoke not only anemia, but also other serious disorders in the body of a growing fetus. Therefore, you need to be very careful with your health.
Symptoms of Minkowski-Choffard anemia
The lower the level of normal red blood cells in the blood, the stronger the symptoms of the disease will be. The first signs of pathology develop in a child in the preschool period, or during early school age. Anemia has an undulating course, periods of remission are replaced by periods of exacerbation.
During a hemolytic crisis, massive death of red blood cells occurs. In this case, all the symptoms are gaining strength. When the crisis has passed, the person will feel satisfactorily. Perhaps excessive pallor of the skin and mucous membranes.
Crisis symptoms are:
High body temperature.
Headache.
General weakness and malaise.
Yellowness of the skin.
Cramping and pain in the abdomen.
Enlargement of the liver in size.
Inflammation of the spleen.
The disease can also develop in adulthood. The first sign that a person most often pays attention to is yellowing of the skin. Although in some cases, objective symptoms of a violation may be completely absent. Often, anemia can be diagnosed only during a random examination, when a person donates blood for analysis.
Diagnosis of Minkowski-Shoffara anemia
It is usually not difficult to identify the disease. The doctor will listen to the patient’s complaints and examine him. It is imperative to clarify whether the closest blood relatives of a person suffered from anemia. In addition to an external examination of the skin and mucous membranes, the doctor palpates the abdomen to clarify whether the patient’s liver and spleen are enlarged in size. An ultrasound of these organs is mandatory.
Without laboratory tests, it will not be possible to confirm the diagnosis, so the doctor directs the patient to take the following tests:
Analysis of urine. It can detect bilirubin, protein and urobilin in high concentrations.
Blood for biochemical analysis. In this case, it will be possible to detect a decrease in cholesterol levels, an increase in the level of indirect bilirubin and lactate dehydrogenase.
Blood for clinical analysis. In this case, an increase in the level of reticulocytes will be detected, the erythrocytes themselves decrease in size. In addition, the ESR increases, and there may be a decrease in the level of platelets and leukocytes. The color index of the blood will be below normal.
To confirm the diagnosis, it will be necessary to study the proteins of erythrocyte membranes by two-dimensional electrophoresis.
It is imperative to carry out a differential diagnosis of Minkowski-Choffard anemia with autoimmune diseases. First of all, it is necessary to carefully study the family history, since Minkowski-Choffard anemia is most often inherited. In addition, sick children have certain changes in the structure of the skull. If the doctor has doubts, then the patient performs the Coombs test. When this test is negative, the diagnosis is confirmed.
Treatment of Minkowski-Shoffara anemia
Depending on the severity of the course of the disease, the methods of its medical correction will differ. During the period of remission of anemia, therapy is not carried out. During an exacerbation of the pathology, the patient must be hospitalized.
Treatment is reduced to the following activities:
When the hemoglobin level drops to 70 g/l, the patient is transfused with erythrocyte mass.
With a high level of bilirubin in the blood, albumin is administered to the patient.
To remove intoxication from the body, the patient is given infusion therapy.
Choleretic drugs can improve the patient’s well-being during a hemolytic crisis.
The severe course of Minkowski-Choffard anemia requires surgical intervention. For this, the patient’s spleen is removed. This will not make it possible to completely get rid of anemia, but the person’s condition improves, since the life cycle of red blood cells can be extended.
After removal of the spleen, the patient will no longer face hemolytic crises. However, this procedure is contraindicated in children under 5 years of age, since splenectomy is fatal in babies. In addition, the absence of the spleen in the body contributes to a decrease in immunity. The person becomes susceptible to various infections.
Another surgical method for treating anemia is endovascular occlusion. This procedure is an alternative to splenectomy. During the procedure, the patient is injected with a drug that causes an infarction of the spleen. A certain part of it does not die, but continues to function, so the patient’s condition improves, but the immunity does not fall.
If the disease proceeds easily and the patient receives high-quality and timely treatment, then the prognosis for life is favorable. Removal of the spleen avoids crises. Without surgery, the average duration of remission between hemolytic crises is 2 years.
Complications of Minkowski-Choffard anemia
In childhood, Minkowski-Choffard anemia can cause a delay in mental and physical development. Most often this is observed when the child does not receive treatment, or it is started too late.
In adulthood, the most common complication of Minkowski-Choffard anemia is cholelithiasis, which develops against the background of an increased level of bilirubin in the blood. Often, a hemolytic crisis is confused with obstructive jaundice, so the patient is not given adequate therapy. If stones are found in the patient’s gallbladder, then it is removed along with the spleen.
Preventive measures
Minkowski-Choffard anemia is a disease that is inherited, so it is impossible to prevent its development. People suffering from this pathology should be registered with a hematologist.
The probability of the birth of a child with hemolytic anemia in a sick mother is equal to 50%. Therefore, such children should be qualitatively examined from birth.