What are the main symptoms of aplastic anemia. How is aplastic anemia diagnosed and treated. What factors increase the risk of developing aplastic anemia. Can aplastic anemia be prevented or managed through lifestyle changes.

Understanding Aplastic Anemia: A Rare Blood Disorder

Aplastic anemia is a serious and uncommon condition that occurs when the body fails to produce sufficient new blood cells. This disorder can develop at any age and may manifest suddenly or progress gradually over time. The severity of aplastic anemia can range from mild to life-threatening, significantly impacting a person’s quality of life.

In aplastic anemia, the bone marrow—responsible for producing blood cells—becomes either empty (aplastic) or contains very few blood cells (hypoplastic). This deficiency in blood cell production leads to a host of complications, including fatigue, increased susceptibility to infections, and a higher risk of uncontrolled bleeding.

What causes aplastic anemia?

The most common cause of aplastic anemia is an autoimmune response where the body’s immune system attacks the stem cells in the bone marrow. However, several other factors can contribute to the development of this condition:

• Radiation and chemotherapy treatments
• Exposure to toxic chemicals, such as pesticides and benzene
• Certain medications, including some antibiotics and drugs used to treat rheumatoid arthritis
• Autoimmune disorders
• Viral infections affecting the bone marrow
• Pregnancy (in rare cases)
• Unknown factors (idiopathic aplastic anemia)

Recognizing the Symptoms of Aplastic Anemia

Aplastic anemia can present with various symptoms, although some individuals may experience no noticeable signs. The most common symptoms include:

• Extreme fatigue and weakness
• Shortness of breath, especially during physical activity
• Rapid or irregular heart rate
• Pale skin
• Frequent or prolonged infections
• Unexplained or easy bruising
• Nosebleeds and bleeding gums
• Prolonged bleeding from cuts
• Skin rashes
• Dizziness and headaches
• Fever

Is there a difference between acute and chronic aplastic anemia? Aplastic anemia can be either short-lived (acute) or long-lasting (chronic). Acute cases may resolve on their own or with treatment, while chronic cases require ongoing management and can be more severe, potentially leading to life-threatening complications.

Diagnosing Aplastic Anemia: What to Expect

Diagnosing aplastic anemia typically involves a combination of medical history review, physical examination, and various diagnostic tests. The process may include:

1. Complete blood count (CBC) to assess levels of red blood cells, white blood cells, and platelets
2. Bone marrow biopsy to examine the quantity and quality of stem cells
3. Genetic testing to rule out inherited disorders like Fanconi’s anemia
4. Additional blood tests to check for viral infections or autoimmune disorders

How does aplastic anemia differ from other types of anemia? Unlike iron-deficiency anemia or other common forms of anemia that primarily affect red blood cells, aplastic anemia impacts all three types of blood cells: red blood cells, white blood cells, and platelets. This comprehensive effect on blood cell production distinguishes aplastic anemia and contributes to its potentially severe consequences.

Treatment Options for Aplastic Anemia

The treatment approach for aplastic anemia depends on the severity of the condition, the patient’s age, and overall health status. Common treatment options include:

• Blood transfusions to replenish red blood cells and platelets
• Immunosuppressive therapy to prevent the immune system from attacking bone marrow stem cells
• Stem cell transplantation (bone marrow transplant) for severe cases
• Growth factors to stimulate blood cell production
• Antibiotics and antiviral medications to prevent and treat infections

Can aplastic anemia be cured completely? While some cases of aplastic anemia can be successfully treated and even cured, particularly through stem cell transplantation, other cases may require ongoing management. The prognosis varies depending on the underlying cause, the severity of the condition, and the patient’s response to treatment.

Risk Factors and Prevention of Aplastic Anemia

Although aplastic anemia is rare, certain factors can increase the risk of developing this condition:

• High-dose radiation or chemotherapy treatment for cancer
• Exposure to toxic chemicals in the environment or workplace
• Use of certain prescription drugs, such as chloramphenicol or gold compounds
• Presence of certain blood diseases, autoimmune disorders, or serious infections
• Pregnancy (in rare instances)

Is it possible to prevent aplastic anemia? While most cases of aplastic anemia cannot be prevented, some measures can help reduce the risk:

• Avoiding exposure to known toxic chemicals, such as insecticides, herbicides, and organic solvents
• Using protective equipment when working with potentially harmful substances
• Discussing the potential risks of medications with healthcare providers
• Maintaining overall health through a balanced diet and regular exercise

Living with Aplastic Anemia: Coping Strategies and Lifestyle Adjustments

Managing aplastic anemia often requires significant lifestyle adjustments. Patients may need to:

• Attend regular medical appointments for monitoring and treatment
• Take precautions to avoid infections, such as practicing good hygiene and avoiding crowds during flu season
• Modify their diet to support blood cell production and overall health
• Manage fatigue through rest and pacing of activities
• Seek emotional support through counseling or support groups

How can individuals with aplastic anemia maintain a good quality of life? While living with aplastic anemia can be challenging, many patients can maintain a good quality of life through proper treatment, regular medical care, and lifestyle adjustments. Working closely with healthcare providers and adhering to treatment plans are crucial for managing symptoms and preventing complications.

Complications and Long-term Outlook for Aplastic Anemia Patients

Aplastic anemia can lead to several complications if left untreated or poorly managed:

• Severe infections due to low white blood cell count
• Uncontrolled bleeding resulting from low platelet count
• Fatigue and shortness of breath due to anemia
• Potential development of other blood disorders, such as myelodysplastic syndrome or leukemia

What is the long-term prognosis for individuals with aplastic anemia? The long-term outlook for aplastic anemia patients has improved significantly in recent years due to advancements in treatment options. Many patients respond well to immunosuppressive therapy or stem cell transplantation, with some achieving complete remission. However, the prognosis can vary widely depending on the individual case, underlying cause, and response to treatment.

Research and Future Directions in Aplastic Anemia Treatment

Ongoing research in the field of aplastic anemia aims to improve understanding of the condition and develop more effective treatments. Some areas of focus include:

• Gene therapy approaches to correct underlying genetic defects
• Development of new immunosuppressive drugs with fewer side effects
• Improving stem cell transplantation techniques to reduce complications and increase success rates
• Investigating the role of specific environmental factors in triggering aplastic anemia
• Exploring novel approaches to stimulate blood cell production in the bone marrow

How might future advancements change the landscape of aplastic anemia treatment? As research progresses, it is hoped that new treatments will emerge that can more effectively target the underlying causes of aplastic anemia, potentially leading to higher cure rates and improved quality of life for patients. Additionally, advancements in personalized medicine may allow for more tailored treatment approaches based on individual patient characteristics and genetic profiles.

In conclusion, aplastic anemia is a complex and potentially severe blood disorder that requires prompt diagnosis and appropriate treatment. While it can be a challenging condition to manage, ongoing advancements in medical research and treatment options continue to improve outcomes for many patients. By understanding the causes, symptoms, and available treatments, individuals affected by aplastic anemia can work closely with their healthcare providers to develop effective management strategies and maintain the best possible quality of life.

Aplastic anemia – Symptoms & causes

Overview

Aplastic anemia is a condition that occurs when your body stops producing enough new blood cells. The condition leaves you fatigued and more prone to infections and uncontrolled bleeding.

A rare and serious condition, aplastic anemia can develop at any age. It can occur suddenly, or it can come on slowly and worsen over time. It can be mild or severe.

Treatment for aplastic anemia might include medications, blood transfusions or a stem cell transplant, also known as a bone marrow transplant.

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Symptoms

Aplastic anemia can have no symptoms. When present, signs and symptoms can include:

• Fatigue
• Shortness of breath
• Rapid or irregular heart rate
• Pale skin
• Frequent or prolonged infections
• Unexplained or easy bruising
• Nosebleeds and bleeding gums
• Prolonged bleeding from cuts
• Skin rash
• Dizziness
• Headache
• Fever

Aplastic anemia can be short-lived, or it can become chronic. It can be severe and even fatal.

Causes

Stem cells in the bone marrow produce blood cells — red cells, white cells and platelets. In aplastic anemia, stem cells are damaged. As a result, the bone marrow is either empty (aplastic) or contains few blood cells (hypoplastic).

Bone marrow

Bone marrow is a red, spongy material inside your bones that produces blood cells.

The most common cause of aplastic anemia is from your immune system attacking the stem cells in your bone marrow. Other factors that can injure bone marrow and affect blood cell production include:

• Radiation and chemotherapy treatments. While these cancer-fighting therapies kill cancer cells, they can also damage healthy cells, including stem cells in bone marrow. Aplastic anemia can be a temporary side effect of these treatments.
• Exposure to toxic chemicals. Toxic chemicals, such as some used in pesticides and insecticides, and benzene, an ingredient in gasoline, have been linked to aplastic anemia. This type of anemia might improve if you avoid repeated exposure to the chemicals that caused your illness.
• Use of certain drugs. Some medications, such as those used to treat rheumatoid arthritis and some antibiotics, can cause aplastic anemia.
• Autoimmune disorders. An autoimmune disorder, in which your immune system attacks healthy cells, might involve stem cells in your bone marrow.
• A viral infection. Viral infections that affect bone marrow can play a role in the development of aplastic anemia. Viruses that have been linked to aplastic anemia include hepatitis, Epstein-Barr, cytomegalovirus, parvovirus B19 and HIV.
• Pregnancy. Your immune system might attack your bone marrow during pregnancy.
• Unknown factors. In many cases, doctors aren’t able to identify the cause of aplastic anemia (idiopathic aplastic anemia).

Connections with other rare disorders

Some people with aplastic anemia also have a rare disorder known as paroxysmal nocturnal hemoglobinuria, which causes red blood cells to break down too soon. This condition can lead to aplastic anemia, or aplastic anemia can evolve into paroxysmal nocturnal hemoglobinuria.

Fanconi’s anemia is a rare, inherited disease that leads to aplastic anemia. Children born with it tend to be smaller than average and have birth defects, such as underdeveloped limbs. The disease is diagnosed with the help of blood tests.

Risk factors

Aplastic anemia is rare. Factors that can increase risk include:

• Treatment with high-dose radiation or chemotherapy for cancer
• Exposure to toxic chemicals
• The use of some prescription drugs — such as chloramphenicol, which is used to treat bacterial infections, and gold compounds used to treat rheumatoid arthritis
• Certain blood diseases, autoimmune disorders and serious infections
• Pregnancy, rarely

Prevention

There’s no prevention for most cases of aplastic anemia. Avoiding exposure to insecticides, herbicides, organic solvents, paint removers and other toxic chemicals might lower your risk of the disease.

Are You Anemic? Signs & Symptoms

Anemia, also known as iron-poor blood, is a common disorder that occurs when a deficiency in your red blood cells impedes delivery of oxygen throughout your body.

The most common cause of anemia is low iron levels in the blood – iron-deficiency anemia.

Without iron, your red blood cells may become low in a protein called hemoglobin, which carries oxygen from the lungs to the rest of the body. You essentially begin to suffocate from within.

A normal red blood cell count in women is 12 grams per deciliter of blood (g/DL), and in men it’s 15g/DL. If you show below-normal levels, your doctor will most likely perform other blood tests to determine what’s at the root of the problem.

People who are anemic feel tired and worn out, and their overall health begins to suffer. In severe cases, anemic people who do not seek treatment can experience major organ damage due to oxygen starvation.

Causes of Anemia

There are three main reasons people become anemic: blood loss, a reduction in the body’s ability to produce new red blood cells, or an illness that leads to increased destruction of red blood cells.

Blood loss. When the amount of blood lost is greater than your body’s ability to replace the lost red blood cells, you can become anemic. Women who experience heavy menstrual periods, for example, and people who have internal bleeding due to ulcers or other digestive problems are at the greatest risk for anemia. Sometimes this type of blood loss is silent and unrecognized until anemia shows up on a blood test. External bleeding from surgery or trauma also can cause anemia.

Low production of red blood cells. Even if you’re not bleeding, old red blood cells constantly need to be replaced with new ones.

A number of factors can cause your body to produce too few red blood cells, or red blood cells lacking in sufficient hemoglobin.

These include:

• Diet. If your diet is lacking in foods containing iron, folic acid, vitamin B12, and other essential nutrients, your red blood cell production can falter.
• Medical conditions.  Chronic illnesses like cancer, diabetes, kidney disease, and HIV/AIDS can interfere with the body’s ability to produce red blood cells. Women who are pregnant also can become anemic.
• Genetic disorders. Children can inherit conditions, like aplastic anemia, that prevent them from producing enough red blood cells. Inherited conditions like sickle cell anemia and hemolytic anemia also can prompt the body to destroy red blood cells.
• Increased red blood cell destruction. Certain diseases can cause your body to turn on its own red blood cells and destroy them. For example, you can become anemic due to an illness that affects your spleen, the organ that normally removes worn-out red blood cells from your body. A diseased or enlarged spleen can begin removing more red blood cells than necessary.

Anemia Signs and Symptoms

People who are anemic most often experience fatigue. While it’s normal to feel tired after a long day at work or a heavy exercise session, when you’re anemic, you feel weary after shorter and shorter periods of exertion as your body’s cells become starved for oxygen.

As anemia worsens, your body can experience visible physical changes — your skin could become pale, your nails brittle and cuts may take longer to stop bleeding.

Other symptoms associated with anemia include:

• Shortness of breath
• Irritability
• Weakness
• Dizziness
• Cold hands and feet
• Racing or irregular heartbeat
• Inability to concentrate or think clearly
• Chest pain
• Sexual dysfunction

These symptoms are likely to be very light at first, especially if you have mild or moderate anemia. Our bodies are very adaptable, and will try to compensate for the loss of oxygen in the blood. As anemia advances, your body will be less able to adapt and the symptoms will become more obvious.

You should see your doctor if you are experiencing these symptoms. However, anemia is often discovered while investigating another illness, since early-stage anemia often involves few or no symptoms.

A diagnosis of anemia usually involves:

• A Complete blood count (CBC), a blood test that measures all the different components of your blood.
• A medical and family history that can indicate whether you’ve become anemic due to illness or a genetic condition.
• A physical exam that can tell whether your breathing or heartbeat has become irregular due to anemia.
• Other blood tests that will check for iron or vitamin deficiencies and look more closely at your red blood cells and hemoglobin.

If you feel consistently weak or have any of the other symptoms associated with anemia, your next step should be to see your doctor.

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Iron deficiency anemia (IDA). Causes, clinical and laboratory manifestations of IDA. — St. Petersburg State Budgetary Institution of Healthcare “Dermatovenerological Dispensary No.

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Iron deficiency anemia – hypochromic anemia, in which the body is in conditions of iron (Fe) deficiency. The content of iron decreases in the bone marrow, tissues, blood serum and depot. As a result, the formation of hemoglobin is disrupted, hypochromic anemia and trophic disorders in tissues occur. The development of anemia is preceded by a latent period of Fe deficiency in the body.

The average human body contains 4.5 g of iron. Iron is in combination with proteins:

1) 60% is contained in hemoglobin and is called heme or heme Fe – this is functional iron. The function of hemoglobin is to carry oxygen from the lungs to the tissues. Hemic Fe is a part of myoglobin, cytochromes, catalase, lactoperoxidase.

2) Proteins containing iron reserves are ferritin and hemosiderin. Ferritin is a water-soluble protein containing 20% ​​of 3-valent iron. It is abundant in the liver, muscles, bone marrow, and spleen; a little – in plasma.

Hemosiderin is a water-insoluble protein derived from ferritin, which contains even more 3-valent iron (about 30%).

3) A protein containing transport Fe – transferrin, belongs to b-globulins, is synthesized in the liver and transfers Fe to the right place. Transferrin is 1/3 bound to iron and 2/3 free. How much these 2/3 can bind and is defined as the total iron-binding capacity (OCHB).

% distribution of Fe in the human body:

– in the composition of erythrocytes and erythrocytes of the bone marrow – 65%

– tissue iron – 15%

– Fe reserves – 20%

– transport Fe – 0.1-0.2%

Daily requirement : men – 1 mg per day

women – 2-3 mg per day

12-15 mg of Fe enters per day, and 5-10% (0.75-1.5 mg) is absorbed. Through the gastrointestinal tract, 2.5 mg of Fe can be absorbed naturally. Fe is best absorbed – heme, which is rich in meat products: veal, liver.

Causes of iron deficiency anemia (general):

– more iron loss than normal

– insufficient iron intake

– increased iron consumption

1) Fe loss – blood loss, small in volume, but constant and lengthy. Most often, women suffer (menstruation, childbirth, abortion, lactation). Loss of 2 ml of blood » 1 mg of Fe. A woman should not lose more than 60 ml of blood per menstruation, hematologists say. Gynecologists believe that a woman can lose 100-200 mg. With large blood loss in women, the need for iron is up to 3 mg per day. 30-40% of women of reproductive age have IDA, and every 2nd woman has a latent period of iron deficiency. During pregnancy, the daily iron requirement is up to 3.5 mg.

In men, blood loss is mainly from the gastrointestinal tract (erosions, diverticula, hernias, ulcers, hemorrhoids).

Iron deficiency anemia occurs with chronic nasal, gingival bleeding, with hematuria.

Iatrogenic loss of iron:

1) donation (for male donors, the need for Fe is 3-3.8 mg/day, for women – 3.7-5.3 mg/day). After each blood donation, it is recommended to take iron supplements for 2 weeks.

2) extracorporeal blood purification (hemodialysis, etc.)

Losses in a closed cavity:

1) endometriosis not associated with the uterine cavity (cavities are formed in the thickness of the uterine wall and other organs; blood is ejected into these cavities during menstruation, the blood is absorbed, and Fe is converted to hemosiderin (insoluble in water)

2) in cysts (same mechanism)

3) isolated pulmonary siderosis (formation of cavities; occurs in the same way as in endometriosis).

In children of the first year of life, young children, adolescents, iron deficiency is observed (due to insufficient initial level of Fe).

If no source of Fe loss can be found, iron deficiency anemia is called essential or idiopathic anemia (but until the source of blood loss is found).

Linear manifestations of IDA.

*symptoms of hypoxia (pallor without signs of ecteria, weakness, dizziness, palpitations, shortness of breath, fainting)

*symptoms of sideropenia: can be replaced by flattening and even concavity)

– cracks appear in the corners of the lips (jamming)

– glossitis, atrophy of the papillae of the tongue

– perversions of taste and smell (patients like chalk, tooth powder, the smell of gasoline, exhaust gases, acetone, etc.)

– muscle weakness (when coughing, sneezing, involuntary urination; in girls, bedwetting).

Laboratory manifestations of IDA.

– decrease in hemoglobin

– low color index

– erythrocytes normal or close to normal

– decrease in hemoglobin content in one erythrocyte MCH

– decrease in hemoglobin concentration in the erythrocyte MCHC

– hypochromia, anisocytosis (in the direction of microcytosis), in severe cases – poikilocytosis

– there may be reticulocytosis

– reduced o serum iron

— TIBC increased

— ferritin content decreased.

Lomanova L.V.

Aplastic anemia | Israel Medical Centers Association

Prof. Ciel Zuckerman

Head of the Bone Marrow Transplant (TKM) Clinic

Specialization:

ONCOHEMATOLOGY

Doctor’s page

What is aplastic anemia

Aplastic anemia is a rare disease (about 5 cases per million are diagnosed each year). Human). In Israel, one of the ways to treat this disease is bone marrow transplantation. The hematology department of the Rambam clinic has a well-equipped laboratory that can carry out the most complex studies necessary for an accurate diagnosis.

Aplastic anemia is a group of diseases that occur due to the suppression of bone marrow function, as a result of which it is not able to produce enough blood cells. The bone marrow is located in the inner part of the bone, where three types of blood cells are produced: red blood cells, which carry oxygen to tissues from the lungs, white blood cells, which fight infection, and platelets, which are involved in the blood clotting process. With aplastic anemia, stem cells are damaged, resulting in a decrease in the number of blood cells, pancytopenia develops.

The causes of aplastic anemia in 50-70% of cases are unknown. It is believed that the development of the disease can be facilitated by: toxic substances, high doses of chemotherapy drugs and drugs, viral infections, bone marrow diseases, heredity.

Aplastic anemia is not a cancer but may be associated with some cancers that affect the bone marrow (leukemia).

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Aplastic anemia treatment review

The disease appeared suddenly, before the final exams. The girl passed blood tests, which showed the presence of serious problems in the hematopoietic organs. The pediatrician advised me to go to Moscow to the best clinic. However, the girl’s body did not respond to the treatment proposed by leading Russian experts. They were told there was no chance…

Types of aplastic anemia

Aplastic anemia can be either congenital or acquired. Acquired aplastic anemia is more common than hereditary.

Hereditary aplastic anemia is associated with gene mutations that occurred in the genome of both parents, it is more common among children and adolescents.

Congenital aplastic anemias:

• Fanconi anemia
• Dyskeratosis congenita
• Diamond-Blackfan anemia
• Shwachman-Diamond Syndrome
• Paroxysmal nocturnal hemoglobinuria

Fanconi anemia (FA)

Fanconi anemia is a rather rare hereditary disease. 15 genes have been identified, mutations in which cause Fanconi anemia. A child can get sick if he inherits one defective gene from his parents. When one defective gene is inherited, the disease does not develop, but the person becomes a carrier of the gene mutation.

Radiation, chemical mutagens can damage human chromosomes, which can lead to aplastic anemia, leukemia and other types of cancer. It was revealed that cancer of the oral cavity, pharynx, esophagus, and vulva occur more often and at an earlier age in patients with Fanconi anemia.

It is possible to assume the presence of this disease by a number of external signs: the absence or shortening of the thumb, underdevelopment of the radius of the upper limb. A child with Fanconi anemia is short, has a small head (microcephaly), a bird-like face, dark spots on the skin. However, in some cases, the child may be no different from other children. An important diagnostic study is a blood test, which reveals a deficiency of blood cells. You can improve blood counts with the help of androgens (male sex hormones). Stem cell transplantation gives a chance to normalize the process of hematopoiesis.

In some cases, when malformations do not appear, no changes in blood tests are detected, the disease is diagnosed at the stage of oncological disease development.

The final diagnosis is based on the results of the patient’s extensive blood tests.

For any questions, please contact our medical consultant

Dyskeratosis congenita

Dyskeratosis congenita is a rare disease that is more commonly diagnosed in men, caused by defects in genes designed to protect chromosomes. There is a telomere at the end of each chromosome. Mutations in the telomere were found in patients with congenital dyskeratosis. The disease has characteristic features: patchy skin pigmentation, nail dystrophy, leukoplakia of the oral mucosa. Patients with this diagnosis are characterized by the development of aplastic anemia and some forms of cancer.

Diamond-Blackfan anemia

Diamond-Blackfan syndrome is characterized by impaired erythropoiesis (erythrocyte formation), while the production of leukocytes and platelets is not impaired, their number is within the normal range. Patients with a history of this syndrome are at risk of developing certain types of cancer, including: MDS (myelodysplastic syndromes), leukemia, bone cancer, and colon cancer.

Shwachman-Diamond syndrome

Shwachman-Diamond syndrome is caused by a gene anomaly in a gene. In this disease, the production of white blood cells (leukocytes) is disrupted. There may also be a decrease in the production of other blood cells. Patients have problems with bone growth and are often short in stature.

Acquired aplastic anemia is mainly diagnosed among the adult population, but it also occurs in children, gene anomalies are not detected. Risk factors can be: drugs, toxic substances, infectious and viral diseases, but the causes of the development of the disease are considered idiopathic (unidentified).

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria is a rare acquired disease associated with damage to part of the bone marrow stem cells, disrupting erythropoiesis and leading to the production of defective erythrocytes, which lack a number of proteins designed to protect red blood cells. Defective erythrocytes are perceived by the body as foreign and are destroyed by cells of the immune system in the process of hemolysis.

Patients diagnosed with paroxysmal nocturnal hemoglobinuria are characterized by low red blood cells (anemia), fatigue, stomach pain, increased blood clotting, and dark urine.

Treatment of aplastic anemia in Israel

For the treatment of aplastic anemia in Israel, donor stem cell transplantation, transplantation of autologous (own) stem cells, bone marrow transplantation are used.

Initiation of therapy in the early stages can prevent the development of a severe form of the disease. After transplantation, a course of maintenance therapy is carried out to alleviate the patient’s condition and improve his quality of life. During maintenance therapy, hormones, immunosuppressants, blood transfusions, platelet mass, red blood cell mass are used.

Hematology in Israel is one of the highly developed branches of medicine. Thousands of patients come to Israel for the treatment of hematological diseases.

Review of the treatment of aplastic anemia in Israel

The disease appeared suddenly, before the final exams. The girl passed blood tests, which showed the presence of serious problems in the hematopoietic organs. The pediatrician advised me to go to Moscow to the best clinic.