Minkowski-Choffard hemolytic anemia: diagnosis and treatment. Children Minkowski-Choffard disease

With anemia, the level of hemoglobin in the blood sharply decreases. Many people have to deal with this disease throughout their lives. Moreover, it does not bypass even small children. Most types of the disease are caused by poor nutrition, vitamin deficiency or taking certain medications. After eliminating the provoking factor, all symptoms stop. Among the variety of pathological processes, one complex and very dangerous one stands out. This hemolytic anemia Minkowski-Shoffar. It's about her we'll talk in today's article.

What is anemia?

Anemia is generally understood as a condition of the body characterized by sharp decline indicators of red blood cells and hemoglobin. Some types of the disease cause changes in the shape of red blood cells. Over time, they lose their primary functions.

Anemia often accompanies various diseases, but is never primary. This is why the disorder should not be ignored. It is necessary to find its cause as quickly as possible and try to eliminate it.

Features of hemolytic anemia

The concept of “hemolytic anemia” includes a wide group of diseases. All of them are characterized general pathogenesis. Increased destruction of red blood cells leads to an increase in their breakdown products and to an increase in erythropoiesis. The cycle of red cell formation is disrupted. The processes of their destruction gradually begin to prevail over the mechanisms of appearance and ripening.

All hemolytic anemias are conventionally divided into two groups: hereditary and acquired. In this article we will focus on the first option in more detail. To be more precise, let's look at what hereditary Minkowski-Choffard anemia is.

IN medical reference books You can find several names describing the pathological process. This includes microspherocytic anemia and Minkowski-Choffard disease. The latter name is most often used after the names of the pioneering scientists.

This disease is considered very common (1 case for every 5 thousand population). It is diagnosed mainly in residents of Northern Europe. The first signs become noticeable in children early age. If you do not start treating the disease in a timely manner, its course will negatively affect the functioning of the entire body.

Causes and mechanism of disease development

Minkowski-Choffar anemia is accompanied by a violation of structure and function cell membrane red blood cells As a result of the processes taking place, they change their shape to round and become fragile. The first signs of hemolysis appear - the destruction of red blood cells with the simultaneous release of hemoglobin.

U healthy person Red blood cells in their shape resemble a biconcave disc, due to which they move freely through the vessels. With anemia in the membrane of these elements, protein synthesis is disrupted. This leads to the penetration of fluid into the cells. For this reason they change their shape. Passing through the vessels, red blood cells are greatly deformed, and after a while they begin to collapse. Against the background of the ongoing processes, the level of red blood elements drops sharply, and hemolytic anemia develops.

If one of the parents has already been diagnosed with this disease, it will certainly be inherited by the child. It is extremely rare that sick children are born to completely healthy mothers and fathers. In this case, anemia develops against the background of changes in DNA. Primary gene mutation occurs during intrauterine development of the fetus. Required condition The development of the disease is the impact on the mother’s body of the following factors:

radiation, x-rays;
salt intoxication heavy metals, drugs, nicotine;
virus attack.

Under the influence of these factors, not only Minkowski-Choffard anemia can occur, but also more serious pathologies. Therefore, during pregnancy, a woman should try to protect her body.

First symptoms

Clinical picture is largely determined by the degree of severity pathological process and the number of changed red blood cells. Its first symptoms can be observed in preschool and early childhood children. school age. The course of this type of anemia is usually wavy. Attacks of a hemolytic crisis, when a large number of red blood cells are simultaneously destroyed, are followed by periods of calm. However, the symptoms may differ slightly.

For example, the interictal period of the disease is manifested by signs of anemia. Among them are the pallor of the skin, mucous membranes and sclera of the eyes. During a hemolytic crisis, the clinical picture changes and is accompanied by the following symptoms:

Temperature rises to 38 degrees, headache, general malaise.
Development of jaundice.
Abdominal pain of a spasmodic nature.
Discomfort in the liver area due to its enlargement.
Inflammation of the spleen.

Hereditary hemolytic anemia of Minkowski-Choffard also occurs in adults. Most common cause In this case, yellowishness of the skin will prompt you to see a doctor. However, in most cases, this disease is asymptomatic. Patients learn about its existence by chance and usually during a routine examination.

Medical examination

Diagnosis of Minkowski-Choffard anemia is quite simple. If you suspect a disease and its initial signs appear, you should seek help from a doctor. Pathologies of the hematopoietic system are the responsibility of a hematologist. After studying the patient's complaints and family history, the specialist should examine skin and sclera, palpate the abdomen. IN mandatory An ultrasound scan of the liver and spleen is prescribed, since one of the symptoms of the disease is an increase in the size of these organs.

At the same time, the hematologist gives a referral for a number of laboratory tests. Minkowski-Choffard hemolytic anemia is confirmed if the following changes are present:

Urine: hemoglobinuria, increased protein and urobilin levels.
Blood biochemistry: decreased cholesterol, increased lactate dehydrogenase, increased indirect bilirubin.
Examination of erythrocytes: pronounced reticulocytosis, reduction in cell size, decrease in their osmotic stability.
Complete blood count: acceleration of ESR, slight decrease in platelets and leukocytes, reduction in color index.

Finally confirm preliminary conclusion Conducting the erythrocyte membrane in combination with their quantitative determination helps.

Differential diagnosis

Minkowski-Choffard hemolytic anemia in children sometimes causes difficulties during diagnosis. This disease has symptoms similar to other autoimmune pathologies. Therefore, doctors should know some distinctive and characteristic signs of this type of anemia.

First of all we're talking about about hereditary predisposition. Only in exceptional cases are both parents completely healthy. On the other hand, a sick child exhibits obvious changes in the bones of the skull. In doubtful cases, it is additionally prescribed. If the test is negative, the patient is confirmed to have Minkowski-Choffard anemia. The diagnosis is considered complete at this point.

Conservative treatment methods

Therapy for anemia is selected taking into account its severity. During the lull period, as a rule, no intervention is required. During the next attack, the patient is immediately hospitalized.

Conservative treatment of Minkowski-Choffard anemia includes the following measures impacts:

Red blood cell replacement therapy if the hemoglobin level in the blood drops to 70 g/l.
Albumin treatment is prescribed for high rates bilirubin.
Infusion therapy is used to detoxify the body.
In the absence of a pronounced hemolytic crisis, the use of choleretic drugs is indicated.

The duration of such therapy, specific drugs and their dosage - all these issues are decided by the doctor on an individual basis.

Surgery

If microspherocytic hemolytic anemia of Minkowski-Choffard is severe, conservative treatment does not cope with the stated tasks, the patient is recommended to have surgery to remove the spleen. This approach does not completely cure the disease. On the other hand, after the intervention the number of destroyed red blood cells is noticeably reduced, and their life cycle lengthens.

Hemolytic crises do not recur after surgery, but it has a number of contraindications. For example, spleen removal is not recommended for children under 5 years of age because high level mortality in postoperative period. Negative side The procedure is considered to reduce the body's resistance to viral and fungal infections.

An alternative option for removing the spleen is endovascular occlusion. This is another treatment method that is often used for the diagnosis of microspherocytic anemia of Minkowski-Choffard. During the procedure, the doctor injects a medicine into the organ, which provokes a spasm and leads to a splenic infarction. Some of it then retains a full blood supply and does not lose its ability to resist infections.

Possible complications

Minkowski-Choffard hemolytic anemia in children preschool age often leads to mental retardation and physical development. Especially if parents have not applied for a long time medical care or ignored the doctor's recommendations.

In adult patients, the most common complication is cholelithiasis due to impaired bilirubin metabolism. The thing is that it is often perceived as the beginning of the development of obstructive jaundice, therefore correct treatment postponed. In the presence of gallstones, cholecystectomy along with splenectomy is recommended.

Prognosis for recovery

With a mild course of the disease and timely surgery to remove the spleen, the prognosis is favorable. Remission usually occurs immediately after a hemolytic crisis. Its duration may vary, but in most cases it is about two years.

Prevention methods

Minkowski-Choffar anemia is hereditary. Therefore, it is not possible to prevent the occurrence of the disease. For prevention purposes severe forms of the disease, patients with an identified form of anemia are recommended to periodically undergo full examination see a hematologist.

When planning a pregnancy, you should understand that the probability of developing the disease in the unborn child is 50%. Therefore, the newborn is also indicated for constant monitoring by a doctor to identify pathology at an early stage.

Hereditary spherocytosis (Minkowski-Choffard disease)- the most common hereditary hemolytic anemia from the category of membranopathies.

The German physician O. Minkowski (1900) was the first to describe familial hemolytic anemia; M.A. Chauffard (1907), a French physician, discovered in patients a decrease in the resistance of erythrocytes and an associated increase in hemolysis.

Type of inheritance: in approximately 70% of cases, the disease is inherited in an autosomal dominant manner, the remaining 30% is the result of autosomal recessive inheritance or spontaneous mutations.

There are no exact data on the distribution of hereditary spherocytosis, since in many patients the disease may be asymptomatic or mild form. However, the incidence in Northern Europe is 1 in 5000 population. The incidence of the disease is the same in men and women.

Pathogenesis

Associated with a hereditary defect in the erythrocyte membrane in the form of a deficiency of certain structural proteins (spectrins, ankyrins, actins). These proteins serve to maintain the biconcave shape of red blood cells while at the same time allowing them to deform as they pass through narrow capillaries. There are isolated partial spectrin deficiency, combined spectrin and ankyrin deficiency (30-60% of cases), partial deficiency of band 3 protein (15-40% of cases), deficiency of protein 4.2 and other, less significant proteins. The deficiency of these proteins leads to destabilization of the lipid structure of the erythrocyte membrane, and the functioning of the sodium-potassium pump of the membrane is disrupted. The permeability of erythrocytes to sodium ions increases. As sodium enters the cell it pulls water with it. When swelling, the red blood cell acquires a spherical shape - the most energetically favorable. At the same time, it decreases in diameter, but its thickness increases. Such an erythrocyte, due to the altered structure of the membrane, is not capable of transformation when passing through the small intersinusoidal spaces of the spleen, where the concentration of glucose and cholesterol is reduced, which contributes to even greater swelling of the erythrocyte. This passage is accompanied by the detachment of lipid structures. The red blood cell becomes more and more defective and small. Such an erythrocyte is perceived by spleen macrophages as foreign, captured and destroyed. Thus, intracellular hemolysis occurs. The lifespan of red blood cells is sharply reduced (to 12-14 days) due to their severe wear, since more energy is required to remove sodium ions from the cell, which enter in excess into the cell. Compensatory erythrooiesis increases in the bone marrow. As a result of hemolysis, the amount of indirect bilirubin in the blood increases, but its sharp increase does not occur, since the liver significantly increases its functional activity: it enhances the formation of direct bilirubin, as a result of which its concentration in the bile and content in the bile ducts increases. In this case, bilirubin stones often form in the gallbladder and ducts - cholelithiasis develops. As a result, obstructive jaundice may appear: the amount of stercobilinogen and the content of urobilin increase. After the age of 10 years stones gallbladder occur in half of patients who have not undergone splenectomy.

Clinical picture

The severity and diversity of the clinical picture are due to the type of structural protein absent on the erythrocyte membrane (spectrin a-chain deficiency is inherited autosomal dominantly and occurs easily, and p-chain deficiency causes serious disease, inherited autosomal recessively). In half of the cases, hereditary spherocytosis manifests itself already in the newborn period, simulating the picture hemolytic disease newborns or prolonged conjugative hyperbilirubinemia. The clinical picture of a hemolytic crisis consists of a triad of symptoms: pallor, jaundice, splenomegaly. Crises can be triggered infectious diseases, by taking a series medicines, but can be spontaneous. During the intercrisis period, patients do not complain, but their enlarged spleen is always palpable. The more severe the disease, the more clearly certain phenotypic features are expressed, namely: a tower skull, a Gothic palate, a wide bridge of the nose, large distances between the teeth. These changes bone tissue associated with compensatory hyperplasia bone marrow(erythroid germ), and, as a consequence, osteoporosis of flat bones. Depending on the severity of hereditary spherocytosis, the degree of severity clinical symptoms may be different. Sometimes jaundice may be the only symptom, about which the patient consults a doctor. It applies to these individuals famous expression M.A. Shoffara: “They are more jaundiced than sick.” Along with the typical classical signs of the disease, there are forms of hereditary spherocytosis, when hemolytic anemia can be so well compensated that the patient learns about the disease only after undergoing an appropriate examination.

Complications

Most common complication with hereditary spherocytosis - the development of cholelithiasis due to a violation of bilirubin metabolism. The development of obstructive jaundice due to cholelithiasis is often mistaken for a hemolytic crisis. In the presence of stones in the gall bladder, cholecystectomy along with splenectomy is indicated. Performing cholecystectomy alone is not advisable, since ongoing hemolysis will sooner or later lead to the formation of stones in the bile ducts.

Education trophic ulcers- enough rare complication, found in children. Ulcers occur due to the destruction of red blood cells, as a result of which thrombosis of blood vessels occurs and ischemia develops.

Very rarely, so-called aregenerative, or aplastic, crises occur, when increased hemolysis for several days is not accompanied by increased erythropoiesis. As a result, reticulocytes disappear from the blood, anemia quickly increases, and the level of indirect bilirubin decreases. Now the leading etiological role in this complication assigned to parvovirus (B 19).

Diagnostics

Diagnosis of this disease is quite simple. The diagnosis of hereditary spherocytosis is made certain following signs: jaundice, deformation of the facial skull, enlarged spleen, spherocytosis of red blood cells, their reduced osmotic resistance, high reticulocytosis. Great help in staging correct diagnosis careful history taking is important. As a rule, similar symptoms can be detected in one of the patient’s parents, although their severity may be different (for example, periodic icterus of the sclera). IN in rare cases parents are completely healthy. Difficulties in diagnosis are often due to cholelithiasis, usually accompanying hereditary microspherocytosis (due to the formation of bilirubin stones in the ducts and gall bladder). In cholelithiasis, indirect bilirubinemia characteristic of hemolysis is replaced by direct bilirubinemia - obstructive jaundice occurs. Soreness in the area of the gallbladder, some enlargement of the liver - usual signs with hereditary microspherocytosis. Often, for many years, patients have been mistakenly viewed as suffering from biliary tract or liver disease. One of the reasons for the misdiagnosis in this case is the lack of information about reticulocytes.

Laboratory diagnostics includes a number of studies.

Clinical blood test reveals normochromic hyperregenerative anemia, microspherocytosis of erythrocytes. During a crisis, there may be neutrophilic leukocytosis with a shift to the left. An increase in ESR is characteristic.

Biochemical analysis - blood noted an increase in indirect bilirubin, serum iron, LDH.

It is mandatory to study the osmotic resistance of erythrocytes in sodium chloride solutions different concentrations. With hereditary spherocytosis, a decrease in minimal osmotic resistance is noted, when hemolysis of the least resistant red blood cells begins already at a sodium chloride concentration of 0.6-0.7% (normal 0.44-0.48%). The maximum resistance can be increased (norm 0.28-0.3%). Among patients with hereditary spherocytosis, there are people who, despite obvious changes in the morphology of erythrocytes, in normal conditions the osmotic resistance of red blood cells is normal. In these cases, it is necessary to examine it after preliminary daily incubation of red blood cells. The morphological features of erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (average erythrocyte diameter<6,4 мкм), увеличение толщины (2,5-3 мкм при норме 1,9-2,1 мкм) при обычно нормальном среднем объёме эритроцитов. В связи с этим в большинстве клеток не видно центрального просветления, так как эритроцит из двояковогнутого превращается в шаровидный.

Bone marrow puncture is not necessary. It is carried out only in unclear cases. The myelogram should show compensatory irritation of the erythroid lineage of hematopoiesis.

To carry out differential diagnosis with immune hemolytic anemia, it is necessary to perform a Coombs test. In hereditary spherocytosis it is negative.

The diagnosis of hereditary spherocytosis can be definitively and reliably confirmed by electrophoresis of erythrocyte membrane proteins in combination with quantitative determination of proteins.

Differential diagnosis

Spherocytosis of erythrocytes and other signs of hemolysis (jaundice, enlarged spleen, reticulocytosis) also occur in autoimmune hemolytic anemia. However, unlike hereditary microspherocytosis, with the latter there are no changes in the skull bones or signs of hereditary microspherocytosis in either parent; at the first clinical manifestations of autoimmune hemolysis, there is still no significant enlargement of the spleen or pain in the gallbladder area, but anisocytosis and poikilocytosis of erythrocytes are more pronounced than with microspherocytosis. In doubtful cases, it is necessary to perform a Coombs test, which is positive (direct test) in most cases of autoimmune hemolytic anemia and negative in hereditary microspherocytosis.

Treatment

Exodus

With a mild course of the disease, as well as with timely splenectomy, the outcome is favorable. The course of hereditary spherocytosis is wavy. Following the development of the crisis, clinical and laboratory parameters improve and remission occurs, which can last from several weeks to several years.

What is Hereditary spherocytosis (Minkowski-Choffard disease) -

Hereditary spherocytosis (Minkowski-Choffard disease)- hemolytic anemia due to a defect in the cell membrane of erythrocytes, the permeability of the membrane to sodium ions becomes excessive, and therefore the erythrocytes acquire a spherical shape, become brittle and are easily subject to spontaneous hemolysis.

Hereditary spherocytosis is a widespread disease (2-3 cases per 10,000 population) and occurs in people of most ethnic groups, but residents of northern Europe are more often affected.

What provokes / Causes of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis is transmitted in an autosomal dominant manner. As a rule, one of the parents shows signs of hemolytic anemia. Sporadic cases of the disease are possible (in 25%), representing new mutations.

Pathogenesis (what happens?) during Hereditary spherocytosis (Minkowski-Choffard disease):

IN pathogenesis of hereditary spherocytosis 2 provisions are indisputable: the presence of a genetically determined anomaly of proteins, or spectrins, of the erythrocyte membrane and the eliminating role of the spleen in relation to spheroidally altered cells. All patients with hereditary spherocytosis have a deficiency of spectrins in the erythrocyte membrane (up to 1/3 of the norm), and some have a violation of their functional properties, and it has been established that the degree of spectrin deficiency may correlate with the severity of the disease.

A hereditary defect in the structure of the erythrocyte membrane leads to increased permeability to sodium ions and accumulation of water, which in turn leads to excessive metabolic load on the cell, loss of surface substances and the formation of a spherocyte. Forming spherocytes, when moving through the spleen, begin to experience mechanical difficulty, lingering in the red pulp and being exposed to all types of adverse effects (hemoconcentration, pH changes, active phagocytic system), i.e. the spleen actively damages the spherocytes, causing even greater membrane fragmentation and spherulation. This is confirmed by electron microscopic studies, which made it possible to detect ultrastructural changes in erythrocytes (thickening of the cell membrane with its ruptures and the formation of vacuoles). After 2-3 passages through the spleen, the spherocyte undergoes lysis and phagocytosis. The spleen is the site of red blood cell death; whose life expectancy is reduced to 2 weeks.
Although erythrocyte defects in hereditary spherocytosis are genetically determined, conditions arise in the body under which these defects deepen and a hemolytic crisis occurs. Crises can be provoked by infections, certain chemicals, and mental trauma.

Symptoms of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis can manifest itself from the neonatal period, but more pronounced symptoms are found towards the end of preschool and at the beginning of school age. Early manifestation of the disease predetermines a more severe course. Boys get sick more often.

Hereditary spherocytosis is hemolytic anemia with a predominantly intracellular type of hemolysis, this also causes the clinical manifestations of the disease - jaundice, enlarged spleen, a greater or lesser degree of anemia, a tendency to form stones in the gall bladder.

Complaints and clinical and laboratory symptoms are largely determined by the period of the disease. Outside of a hemolytic crisis, there may be no complaints. With the development of a hemolytic crisis, there are complaints of increased fatigue, lethargy, headache, dizziness, pallor, jaundice, decreased appetite, abdominal pain, a possible increase in temperature to high levels, nausea, vomiting, increased frequency of stools, and a terrible symptom - the appearance of convulsions.

The symptoms of a crisis are largely determined by anemia and depend on the degree of hemolysis.
On objective examination, the skin and visible mucous membranes are pale or lemon yellow. In children with early manifestations of hereditary spherocytosis, deformations of the skeleton are possible, especially of the skull (tower, square skull, the position of the teeth changes, etc.); Genetic stigmas are not uncommon. Patients exhibit varying degrees of severity of changes in the cardiovascular system caused by anemia. Hepatolienal syndrome with a predominant enlargement of the spleen is characteristic. The spleen is dense, smooth, often painful, which is apparently explained by tension of the capsule due to blood filling or perisplenitis. The color of excrement at the time of crisis is intense. It should be noted that there are possible fluctuations in the size of the spleen: a significant increase during hemolytic crises and a decrease during periods of relative well-being.

Depending on the severity of hereditary spherocytosis, clinical symptoms may be mild. Sometimes jaundice may be the only symptom for which the patient consults a doctor. It is to these individuals that Shoffar’s famous expression applies: “They are more jaundiced than sick.” Along with the typical classical signs of the disease, there are forms of hereditary spherocytosis, when hemolytic anemia can be so well compensated that the patient learns about the disease only after undergoing an appropriate examination.

Along with the most typical hemolytic crises in severe hereditary spherocytosis, aregenerative crises with symptoms of hypoplasia of the predominantly red bone marrow are possible. Such crises can develop acutely with quite pronounced symptoms of anemia-hypoxia and are usually observed in children after 3 years of life. Aregenerative crises are short-term (1-2 weeks) and are reversible, unlike true aplasia.

Hereditary spherocytosis is complicated by the formation of pigment stones in the gallbladder and bile ducts; after 10 years, gallstones occur in half of patients who have not undergone splenectomy.

Diagnosis of Hereditary spherocytosis (Minkowski-Choffard disease):

Diagnosis of hereditary spherocytosis diagnosed on the basis of genealogical history, clinical data described above and laboratory tests. The hemolytic nature of anemia is confirmed by normochromic normocytic anemia with reticulocytosis, indirect hyperbilirubinemia, the severity of which depends on the severity of hemolysis. The final diagnosis is based on the morphological characteristics of erythrocytes and a characteristic sign of hereditary spherocytosis - a change in the osmotic resistance of erythrocytes.

The morphological features of erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (average erythrocyte diameter
A characteristic sign of hereditary spherocytosis is a decrease in the minimum osmotic resistance (persistence) of red blood cells - hemolysis begins at 0.6-0.7% NaCl (the norm is 0.44-0.48% NaCl). To confirm the diagnosis, a significant decrease in the minimum osmotic resistance is important. The maximum resistance can be increased (norm 0.28-0.3% NaCl). Among patients with hereditary spherocytosis, there are people who, despite obvious spherocytosis, under normal conditions have normal osmotic resistance of red blood cells. In these cases, it is necessary to examine it after preliminary daily incubation of red blood cells.

Course of hereditary spherocytosis wavy. Following the development of the crisis, clinical and laboratory parameters improve and remission occurs, which can last from several weeks to several years.

Differential diagnosis. Hereditary spherocytosis should be differentiated from other congenital hemolytic anemias. Family history data, examination of blood smears and osmotic resistance of erythrocytes are of greatest diagnostic value.

Among other diseases, hereditary spherocytosis is primarily differentiated from hemolytic disease of newborns, and at older ages - with viral hepatitis and autoimmune hemolytic anemia.

Treatment of Hereditary spherocytosis (Minkowski-Choffard disease):

Treatment of hereditary spherocytosis carried out depending on the clinical manifestations of the disease and the age of the child. During a hemolytic crisis, treatment is conservative. The patient must be hospitalized. The main pathological syndromes that develop during a crisis are: anemia-hypoxia, cerebral edema, hyperbilirubinemia, hemodynamic disorders, acidotic and hypoglycemic changes. Therapy should be aimed at eliminating these disorders according to generally accepted schemes. Erythromass transfusions are indicated only with the development of severe anemia (8-10 ml/kg). The use of glucocorticoids is inappropriate. Upon recovery from the crisis, the regimen and diet are expanded, and choleretic drugs (mainly cholekinetics) are prescribed. In case of development of an aregenerative crisis, replacement blood transfusion therapy and stimulation of hematopoiesis are necessary (erythromass transfusions, prednisolone 1-2 mg/kg/day, vitamin B12 until the appearance of reticulocytosis, etc.).

A radical method of treating hereditary spherocytosis is splenectomy, which ensures practical recovery, despite the preservation of spherocytes and a decrease in osmotic resistance (their severity decreases). The optimal age for surgery is 5-6 years. However, age cannot be considered as a contraindication to surgical treatment. Severe hemolytic crises, their continuous course, and aregenerative crises are indications for splenectomy even in young children. There is an increased susceptibility to infectious diseases within 1 year after surgery. In this regard, a number of countries have adopted monthly administration of bicillin-5 for one year after splenectomy, or immunization with a pneumococcal polyvaccine is carried out before a planned splenectomy.

Forecast favorable for hereditary spherocytosis. However, in severe cases, hemolytic crisis if not treated promptly is serious (possible death).

Since hereditary spherocytosis is inherited in an autosomal dominant manner with a fairly high penetrance of the gene, it must be taken into account that the risk of having a sick child (of either sex) if one of the parents has hereditary spherocytosis is 50%. Children with hereditary spherocytosis are constantly monitored at the dispensary.

Diet. Introducing an increased amount of folic acid into the diet (more than 200 mcg/day). Recommended products: wholemeal baked goods, buckwheat and oatmeal, millet, soybeans, beans, chopped raw vegetables (cauliflower, green onions, carrots), mushrooms, beef liver, cottage cheese, cheese.

Prevention of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis cannot be prevented. However, people with hereditary spherocytosis can contact a genetic counselor to discuss the possibility of identifying the defective gene that is causing the disease in their children.

Prevention of hereditary spherocytosis comes down to therapeutic measures during crises.

Which doctors should you contact if you have Hereditary spherocytosis (Minkowski-Choffard disease):

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Other diseases from the group Diseases of the blood, hematopoietic organs and certain disorders involving the immune mechanism:

B12 deficiency anemia

Anemia caused by impaired synthesis and utilization of porphyrins

Anemia caused by a violation of the structure of globin chains

Anemia characterized by the carriage of pathologically unstable hemoglobins

Fanconi anemia

Anemia associated with lead poisoning

Aplastic anemia

Autoimmune hemolytic anemia

Autoimmune hemolytic anemia with incomplete heat agglutinins

Autoimmune hemolytic anemia with complete cold agglutinins

Autoimmune hemolytic anemia with warm hemolysins

Heavy chain diseases

Werlhof's disease

von Willebrand disease

Di Guglielmo's disease

Christmas disease

Marchiafava-Miceli disease

Randu-Osler disease

Alpha heavy chain disease

Gamma heavy chain disease

Henoch-Schönlein disease

Extramedullary lesions

Hairy cell leukemia

Hemoblastoses

Hemolytic-uremic syndrome

Hemolytic anemia associated with vitamin E deficiency

Hemolytic anemia associated with glucose-6-phosphate dehydrogenase (G-6-PDH) deficiency

Hemolytic disease of the fetus and newborn

Hemolytic anemia associated with mechanical damage to red blood cells

Hemorrhagic disease of the newborn

Malignant histiocytosis

Histological classification of lymphogranulomatosis

DIC syndrome

Deficiency of K-vitamin-dependent factors

Factor I deficiency

Factor II deficiency

Factor V deficiency

Factor VII deficiency

Factor XI deficiency

Factor XII deficiency

Factor XIII deficiency

Iron-deficiency anemia

Patterns of tumor progression

Immune hemolytic anemias

Bedbug origin of hemoblastoses

Leukopenia and agranulocytosis

Lymphosarcoma

Lymphocytoma of the skin (Caesary disease)

Lymphocytoma of the lymph node

Lymphocytoma of the spleen

Radiation sickness

March hemoglobinuria

Mastocytosis (mast cell leukemia)

Megakaryoblastic leukemia

The mechanism of inhibition of normal hematopoiesis in hemoblastoses

Obstructive jaundice

Myeloid sarcoma (chloroma, granulocytic sarcoma)

Myeloma

Myelofibrosis

Disorders of coagulation hemostasis

Hereditary a-fi-lipoproteinemia

Hereditary coproporphyria

Hereditary megaloblastic anemia in Lesch-Nyan syndrome

Hereditary hemolytic anemia caused by impaired activity of erythrocyte enzymes

Hereditary deficiency of lecithin-cholesterol acyltransferase activity

Hereditary factor X deficiency

Hereditary microspherocytosis

Hereditary pyropoikilocytosis

Hereditary stomatocytosis

Hereditary elliptocytosis

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Acute posthemorrhagic anemia

Acute lymphoblastic leukemia

Minkowski-Choffard anemia is a type of anemia caused by hemolysis (destruction) of red blood cells due to their intracellular defects. The disease is also known as Hereditary Microspherocytosis. The prevalence of this disease is generally 2 - 3 cases per 10 thousand people and 80% of all cases of hemolytic anemia. It is more common in the population of northern Europe.

The disease is detected in newborns, but symptoms become more pronounced in children of preschool and primary school age. It has been noticed that boys are more often affected. The earlier the disease begins, the more severe its symptoms will be.

Why does Minkowski shoffar anemia occur?

The basis for the occurrence of the disease are genetic hereditary factors. Inheritance occurs in an autosomal dominant manner, and is often found in 50% of cases in one of the close relatives.

What processes occur in the body during Hereditary microspherocytosis

The pathogenesis of the disease is based on an inherited defect in the erythrocyte membrane, as a result of which it becomes permeable to sodium ions, which leads to the accumulation of water by the cell. Because of this, the red blood cell swells and changes its shape to spherical.

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A deformed erythrocyte (spherocyte) becomes less elastic, turning into a microspherocyte in the spleen due to the loss of part of the membrane. As a result of these processes, the life cycle of a spherocyte is 8–10 days, while a normal red blood cell lives 120 days.

The danger of these processes lies in the fact that when a red blood cell dies, indirect bilirubin is released, which is excreted in feces and urine, and also causes the deposition of pigment stones in the gall bladder and bile ducts.

What symptoms indicate Minkowski–Choffard Anemia?

Considering the pathogenetic processes, Hereditary microspherocytosis has mild and severe degrees. A mild degree will be accompanied by the following manifestations:

jaundice without skin itching. It can often appear in newborns or after hypothermia or psycho-emotional stress;
an increase in the size of the spleen (splenomegaly);
pale skin;
in the blood test: anemia of varying severity;
possible formation of gallstones (in 50% of cases)

Severe degree is characterized by the occurrence of a hemolytic crisis, the signs of which will be:

increase in body temperature to 38 - 39°;
lethargy, weakness, headache, increased fatigue;
nausea, vomiting, diarrhea;
the skin and mucous membranes become lemon-yellow;
pain in the abdomen and right hypochondrium;
hepatolienal syndrome (increase in the size of the liver and spleen);
intense dark coloration of feces and urine;
hemoglobin decreases to 50 g/l.

If the disease begins to manifest itself from an early age, children may eventually experience symptoms of delayed physical, mental and sexual development due to the toxic effects of bilirubin on the central nervous system and reduced production of sex hormones.

How to identify Minkowski-Choffard Anemia

If you find problems indicating this disease, you should contact a hematologist. The doctor will collect a family history to determine whether close relatives have the disease, conduct an examination and assessment of the patient’s condition, and prescribe a series of examinations to confirm the diagnosis.

You will need to take a general blood test (to determine the degree and type of anemia, ESR, shape of red blood cells), a biochemical blood test (to determine the level of bilirubin and serum iron). To clarify the diagnosis, a study of the osmotic stability (resistance) of red blood cells and erythrocytometry will be carried out.

Bone marrow puncture is not always performed, but only in cases that present difficulties for diagnosis.

As an additional study, an ultrasound of the abdominal organs may be prescribed to determine the enlargement of the liver and spleen, as well as the presence of cholelithiasis.

How is Hereditary microspherocytosis treated?

Treatment has several stages and depends on the severity of the disease and its clinical symptoms. The age of the child also matters.

In severe cases, accompanied by frequent hemolytic crises, conservative and surgical treatment is used. Conservative therapy includes the fight against intoxication (solutions of glucose, rheopolyglucin, vitamins are administered) and anemia (red blood cells are transfused when hemoglobin decreases to 70 g/l).

For frequently recurrent hemolytic crises, surgical intervention is recommended - removal of the spleen (splenectomy). The optimal age of a child for surgical treatment is 5-6 years.

Which doctors should you contact if you have Hereditary spherocytosis (Minkowski-Choffard disease)

What is Hereditary spherocytosis (Minkowski-Choffard disease)

Hereditary spherocytosis is a widespread disease (2-3 cases per 10,000 population) and occurs in people of most ethnic groups, but residents of northern Europe are more often affected.

What causes Hereditary spherocytosis (Minkowski-Choffard disease)

Pathogenesis (what happens?) during Hereditary spherocytosis (Minkowski-Choffard disease)

Symptoms of Hereditary spherocytosis (Minkowski-Choffard disease)

Hereditary spherocytosis is complicated by the formation of pigment stones in the gallbladder and bile ducts; after 10 years, gallstones occur in half of patients who have not undergone splenectomy.

Diagnosis of Hereditary spherocytosis (Minkowski-Choffard disease)

The morphological features of erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (the average diameter of an erythrocyte. A characteristic sign of hereditary spherocytosis is a decrease in the minimum osmotic resistance (persistence) of erythrocytes - hemolysis begins at 0.6-0.7% NaCl (norm 0. 44-0.48% NaCl). To confirm the diagnosis, a significant decrease in the minimum osmotic resistance is important. The maximum resistance can be increased (the norm is 0.28-0.3% NaCl. Among patients with hereditary spherocytosis, there are people who, despite obvious). spherocytosis, under normal conditions the osmotic resistance of erythrocytes is normal. In these cases, it is necessary to examine it after a preliminary daily incubation of erythrocytes.

Among other diseases, hereditary spherocytosis is primarily differentiated from hemolytic disease of newborns, and at older ages - with viral hepatitis and autoimmune hemolytic anemia.