Diamond-Blackfen anemia (ADB) in children. What is it, pathogenesis, clinical guidelines, diagnosis

A disease called anemia Diamond-Blackfen manifests itself in children and adults. This is a hereditary form of red cell aplasia. The principle of inheritance has not yet been fully understood.

But in a fourth of the patients, an autosomal dominant type of inheritance was revealed. In order to determine the treatment of this type of anemia, it is necessary to diagnose, identify symptoms and obtain more data on the course of the disease.

Types, forms and features

Anemia can be hypoplastic. It is characterized by a reduced number of red blood cells in the blood. This type of disease is extremely rare, but everyone can get this pathology.

Most often, people suffer from a congenital form of anemia, which is characterized by a failure in the synthesis of red blood cells. This is Diamond-Blackfen anemia. At the same time, it is very difficult to identify a risk group, since people are susceptible to pathology, regardless of their gender or age. An inherited disorder may appear many years later or immediately after birth.

In this condition, a sufficient amount of hemoglobin is synthesized, which the body needs. But the resulting hemoglobin begins to linger in the liver, as well as in the spleen. This leads to inflammatory processes in these organs.

How severe the disease will manifest itself does not depend on how long the damaging factor lasts. The acquired form of the disease is also distinguished. As a rule, in this case, it proceeds in a milder form. But it is also extremely rare.

If we are talking about a severe form of congenital anemia, then in this case the erythrocytes can take the shape of a lunar crescent. Therefore, this type of anemia is called sickle-shaped. Pathology may be accompanied by additional diseases and complications: jaundice, enlarged spleen. Due to the constant formation of breakdown products of such red blood cells, there is a risk of developing gallstones.

Anemia in children

Diamond-Blackfen anemia in children is recorded in about 5-7 million cases per year. We are talking about newborns. The first symptoms can be detected at a stage when the clinical picture is already clear. Most often, anemia is diagnosed in the first 3 months of life. Moreover, doctors note that this hereditary disease is more common in premature babies.

Doctors call this a family disease. That is, it can appear in a child even if only one of the parents suffers from Diamond-Blackfen anemia or had a disease in childhood.

Anemia in women

Since the physiology of women differs from that of men, in the case of patients, this disease is diagnosed more often. At the same time, children suffer more from female anemia.

Anemia is especially dangerous if it was detected in a woman when she had already begun to bear a fetus. Most often, patients suffer from an iron deficiency form of the disease. In this case, iron begins to be actively consumed so that the body can form the fetus and the shell for it. This type of anemia is extremely dangerous for the unborn child.

Pathology can provoke oxygen deficiency. Because of this, fetal tissue and even the brain cannot form properly. Anemia of this type negatively affects the condition of the woman herself, which can provoke untimely childbirth or complications after them.

Anemia in women usually develops gradually, so it is very difficult to determine the presence of anemia in a timely manner. A pregnant woman may feel that increased weakness and other symptoms are caused by the process of carrying a child.

Symptoms and stages

Diamond-Blackfen anemia in children and adults often presents as abnormal bone growth or formation. Also, patients are diagnosed with violations of the cardiovascular system. At the initial stage of the development of the disease in childhood, patients have pale skin.

Also, in 40% of patients, the appearance of anomalies of a different nature is noted. The most common diagnoses are cataracts or glaucoma of the congenital type, low body weight, heart problems. Also, a sign of anemia on the initial steel can be various deformities of the skull or face, abnormalities in the formation of the kidneys or ureters.

At the next stage, an insufficient number of gonads is detected in patients. The synthesis of sex hormones slows down. As they grow older, patients begin to complain of severe drowsiness, fatigue, tachycardia, and lack of appetite. Additional symptoms include seizures and frequent tinnitus.

Patients show signs of gastrointestinal tract disorders. This means that the person suffers from vomiting and nausea, which is becoming more common. Sometimes sick people complain of bouts of diarrhea. At the last stage of the disease, hypoplasia of hematopoietic germs occurs. Because of this, the patient may develop leukemia, which quickly becomes acute.

Unlike other types of anemia, Diamond-Blackfen anemia rarely leads to serious damage to the liver and spleen in the early stages. As a rule, this occurs at the end stage of the disease or as a complication after a course of blood transfusion therapy.

Women with this type of anemia most often complain about:

• a strong decrease in performance;
• change in taste preferences (for example, a woman may constantly want chalk);
• frequent depression;
• peeling of the skin;
• deterioration of hair and nails.

Reasons for the appearance

The main cause of this type of anemia is a mutation in the RPS19 gene, which is located on chromosome 19. This mutation is the least common (no more than 1 time in 6 million cases). In the case of more frequent diagnoses, the genes RPS7, RPS24 and others are susceptible to mutations.

Depending on which particular gene has undergone changes, it is possible to draw up a treatment plan and predict the course of the development of the disease. Geneticists have still not been able to determine all the reasons that affect the formation of pathology.

There are several theories that may explain why the process of inhibition of the creation of red blood cells in the area of ​​the red bone marrow occurs. Most often, experts point out that these changes are caused by cell defects, which are the so-called precursors of red blood cells.

A second common theory is that internal cellular abnormalities cause suppression of the immune system. However, none of these theories have yet been officially confirmed.

But it was possible to confirm that the process of such deformation begins to occur even at the stage of development of the fetus inside the womb. Thanks to this, anemia can be diagnosed before the baby is born.

Also, doctors identify several reasons that can cause anemia in women.

These include:

• Diseases of the digestive system. As a rule, we are talking about the idea of ​​chronic pathologies. For example, frequent bleeding and impaired iron absorption can provoke anemia.
• Helminthic invasion. With such a pathology, there is a violation of the absorption process of cyanocobalamin.
• Gynecological diseases.
• Iron deficiency in the body.
• Unbalanced diet. Vegetarians and women who often go on diets that imply extreme fasting often suffer from pathologies of this type.

Diagnostics

Diamond-Blackfen anemia, which is diagnosed in children more often in the initial stages, can be detected rather quickly. To do this, you need to conduct a number of analyzes and determine the criteria that indicate the presence of this pathology.

First of all, an increase (may be normal or insignificant) of platelets is detected in the fetus or patient, and the granulocytes, on the contrary, decrease. Also, studies can reveal in the patient normocellular bone marrow, which is characterized by an isolated type of decrease in erythroid precursors.

If the patient has increased fetal hemoglobin indices, then this cannot indicate anemia. Sometimes patients have too many so-called primitive erythroblasts in the bone marrow. They are sometimes mistaken for leukemic blasts.

In this case, the patient is misdiagnosed as leukemia. As the patient grows older, brain cellularity can decrease, which can also make it difficult to make an accurate diagnosis. Some patients are diagnosed with moderate thrombocytopenia.

Additionally, a number of specialized studies are being carried out. They may show too fast a decrease in the level of committed predecessors. An important stage of the study is the exclusion of other PCA diseases.

In order to identify anemia, it is necessary to conduct a complete blood count. This is an important diagnostic method that can show how the hematopoietic organs are able to respond to various physiological or pathological factors. You also need to get all the information about the amount of iron in the blood.

These studies are prescribed by a hematologist. Usually, the diagnosis is carried out free of charge if the patient has applied to a public medical institution. If necessary, you can take a general blood test in a private clinic. Such a study will cost about 500 rubles. Additional tests can cost about 1500-3000 rubles more.

When to see a doctor

Diamond-Blackfen anemia in children is treatable. However, you need to contact a hematologist or pediatrician when the first signs of pathology appear. First you need to visit a therapist who will give you a referral to a more highly specialized specialist.

If there is a suspicion that an adult has fallen ill, then you can immediately visit a hematologist. Women definitely need to get advice from a gynecologist. It is also worth visiting a gastroenterologist.

In this case, you need to immediately prepare for the questions that the doctor will ask. Therefore, you need to remember when the symptoms began to appear, how often they occur. It is also advisable to check with the parents if they were sick with anemia. The patient should know from what chronic diseases he suffers.

It is necessary to undergo an examination if a person's skin has turned pale, and he suffers from at least a few of the symptoms described above.

Prophylaxis

Since doctors have not yet fully understood the nature of the onset of pathology, it is difficult to provide a complete list of preventive measures. However, studies in which 200 patients with a diagnosis of anemia took part showed that in 25% it was possible to achieve remission in adolescence if in childhood such people were prescribed glucocorticosteroids.

As they get older, the children have almost completely recovered their hemoglobin levels. Therefore, the most effective preventive measure is taking these medications.

Whether a child can fully recover depends on many factors. In some cases, for the prevention of anemia, it is enough to take preparations containing iron. However, all these activities must be agreed with the doctor. Otherwise, there is a risk of negatively affecting the spleen and increasing the load that the liver has to cope with.

Treatment methods

If the pathology has already developed, then the only effective method of treating anemia is the use of glucocorticosteroids. The treatment regimen may differ depending on how the patient's body reacts to the drugs used.

Medications

As a rule, at the initial stage of treatment, the doctor prescribes prednisol to the patient. It must be taken at the rate of 2 mg per 1 kg of body weight twice a day. The first positive reaction is expected in a few weeks. After that, the hemoglobin level should rise to an acceptable level.

At the next stage, the patient continues to take prednisol, but the dose is gradually reduced to that which allows constantly maintaining hemoglobin levels at 90 g / l. At this stage, 2.5-5 mg of the drug is usually sufficient, which the patient takes every day or every other day.

If it is not possible to achieve the desired reaction of the body, then the dose of prednisol is increased. The patient should take the drug at the rate of 5 mg per 1 kg of body weight. The course of such treatment is no more than 7 days, after which a two-week break is taken.

In total, it allows no more than 3-4 courses of such treatment to be carried out. As soon as the first positive result appears, the interval between taking prednisol increases.

Some doctors believe that ultra-high doses of methylprednisol are the best treatment. They prescribe to their patients at 30-100 mg / kg. Although these measures are very popular in the medical environment, it has not been possible to prove the effectiveness of methylprednisol.

Glucocorticosteroids are 70% effective. They have no visible effect on the other 20% of patients. They gradually become resistant to these drugs. However, often the patient's body does not show changes in hemoglobin after the first course of treatment.

Subsequent reception becomes more effective. Therefore, even if it was not possible to immediately cure a person with this method, the doctor every year carries out repeated therapeutic measures and assesses the body's response.

Some doctors are trying to treat with growth factors, namely erythropoietin. However, studies have shown that such treatment is completely ineffective. Cyclosporine is also a dubious drug, even though several doctors have reported successful treatment of patients.

If the patient has an HLA-genetically identical sibling, they may be referred for allogeneic transplantation. In this case, a bone marrow transplant is performed. However, it is recommended to resort to such measures only if the patient's hemoglobin has not stabilized even after numerous attempts to use glucocorticosteroids.

Traditional methods

Diamond-Blackfen anemia in children and adults requires timely specialized treatment. Traditional medicine is able to help only in rare cases and is often used as preventive rather than therapeutic measures.

Product	How to use
Beet	This vegetable contains many useful components, including those that improve the hematopoietic function of the human body. It is recommended to eat beets every day. It can be eaten fresh or boiled.
Green apple juice and pomegranate	This combination also has a positive effect on the body. To improve health, it is recommended to drink 400 ml of this juice daily. Only fresh apples and pomegranates can be used.
Forest plantain	The collected plantain leaves must be dried and crushed into powder. It must be added when making breads and eaten periodically.
Lemon	Before taking lemon, you need to make sure that the patient is not allergic to citrus fruits. Lemon promotes the production of glutathione. It is a special protein that helps break down toxins and remove them from human blood. Also, the fruit has a general cleansing effect and promotes the synthesis of enzymes necessary to change the chemical structure of particularly persistent toxins.
Carrot	It contains a large amount of carotene and other useful vitamins that a person needs. If you regularly eat carrots, then the deficiency of proteins will be replenished, which are actively involved in the process of cleansing the liver.
Turmeric	It is a natural antioxidant that also promotes blood formation. Thanks to curcumin, the liver is unloaded, a general recovery of the body occurs. Turmeric is often used in folk medicine to read blood.
Broccoli	This is a separate variety of cabbage, which is considered the most useful and rich in vitamins. Broccoli contains sulforaphane. It is a powerful cleansing agent. If you regularly consume this type of cabbage, then you can significantly improve the composition of the blood.

There are other natural remedies that purify the blood and improve the process of its creation. For example, you can mix black grape juice with almond, walnut, or other nut milk. Drinking this kind also allows you to cleanse the tissues of the human body. To improve the effect, it is recommended to drink 1/8 cup of this formula in the morning and afternoon.

Dandelion has a positive effect. To improve the function of hematopoiesis, you can use any part of the plant, adding it in crushed form to drinks and fresh salads. Dandelion contains a large amount of calcium, a lot of nutrient salts, which are required for the formation of blood.

Dandelion is a popular folk remedy for many types of anemia. Additionally, the intake of this plant can increase endurance if a person suffers from low blood pressure. Another beneficial property of dandelion is the ability to break down the waste of fatty acids that normally accumulate in a person's blood when they begin to lose weight rapidly.

Other bitter herbs (like dandelion) help cleanse the liver and help control the level of bile going into the intestines. Such plants are often used to improve the functioning of the spleen, as well as the pancreas.

It is recommended to use red clover to improve hematopoietic function. Although it is a common weed, its dried inflorescences are recommended to be brewed in the form of tea to remove toxins from the body. In addition, clover helps to thin the phlegm that forms in the respiratory tract.

However, you need to collect clover only in clean places. Clover often grows in ditches along the road. In such places, plants can be saturated with toxic substances.

A decoction of calendula is also effective. To prepare it, you need to pour 3 liters of water with 50 g of grass, close the lid and cook for 30 minutes. After that, you need to wait for the broth to cool and mix it well. The finished mixture must be poured into jars and removed to a cold place. You need to drink the medicine for half a cup every morning.

In folk medicine, blood purification is performed using chaparral. It grows in Mexico and the deserts of the United States, so the plant can only be purchased at a pharmacy. Dried chaparral leaves must be crushed and added to the tea powder. Chaparral is also sold in capsule form. This plant helps remove chemicals from the body that can enter the human bloodstream.

Any alternative methods of treatment can be used only with full confidence that the patient does not have an intolerance to the fruits, vegetables, herbs and other products used.

Other methods

Other treatments can be considered experimental. As a rule, their persuasiveness index is B or C. For example, it is possible to perform stem cell transplantation. This is a radical therapeutic measure. It is permissible only if it was possible to accurately confirm that the patient will undergo the procedure.

The cells of one of the relatives are used as a starting material. The use of unrelated donor cells is allowed if it is compatible. Transplantation is performed for children under 9 years of age, if the only alternative method of treatment is lifelong substitution therapy.

This method of treatment is being actively researched in France and Germany. According to the collected data, the survival rate of patients after the procedure is 94%. If such a transplant is carried out for patients over 9 years old, then only 55% of patients survive. It is also very important that the donor is healthy and undergoes all the necessary examinations.

Possible complications

If you do not start timely treatment or therapeutic measures were ineffective, then there is a risk of developing long-term side effects. For example, a patient may be diagnosed with osteoporosis, diabetes. If we are talking about a child, then his growth may slow down significantly. Sometimes patients develop Cushing's syndrome. Therefore, the doctor continues treatment until a positive trend is obtained.

With adequate treatment of Diamond-Blackfen anemia, all of these side effects can be avoided. In children, the recovery process is faster. But adults are also amenable to therapy. Experts are still working on the best treatment for this pathology. Some modern methods are considered imperfect and only help to solve the problem for a while.

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