What are the main causes of anemia due to excessive bleeding. How can doctors diagnose this condition. What treatment options are available for patients with anemia caused by blood loss.

Understanding Anemia Due to Excessive Bleeding

Anemia due to excessive bleeding occurs when the loss of red blood cells outpaces the body’s ability to produce new ones. This condition can develop rapidly or gradually, depending on the underlying cause and severity of blood loss. Understanding the mechanisms behind this type of anemia is crucial for proper diagnosis and treatment.

The Role of Red Blood Cells in Oxygen Transport

Red blood cells contain hemoglobin, a protein responsible for carrying oxygen from the lungs to various parts of the body. When blood loss occurs, the number of red blood cells decreases, leading to a reduction in the body’s oxygen-carrying capacity. This can result in a range of symptoms and complications if left untreated.

Causes of Anemia Due to Excessive Bleeding

There are numerous potential causes of anemia due to excessive bleeding, ranging from acute traumatic events to chronic underlying conditions. Identifying the source of blood loss is essential for effective treatment.

Acute Causes of Blood Loss

• Traumatic injuries
• Surgical procedures
• Childbirth complications
• Ruptured blood vessels

Chronic Causes of Blood Loss

• Gastrointestinal disorders (e.g., ulcers, polyps)
• Colorectal cancer
• Kidney or bladder tumors
• Heavy menstrual bleeding
• Chronic nosebleeds

Is occult bleeding a common cause of anemia. Occult bleeding, which refers to hidden or unnoticed blood loss, can indeed be a significant contributor to anemia. Small amounts of blood loss over an extended period can lead to substantial depletion of iron stores and subsequent anemia. This type of bleeding is often associated with gastrointestinal conditions such as ulcers or colorectal polyps.

Symptoms and Complications of Anemia Due to Excessive Bleeding

The symptoms of anemia due to excessive bleeding can vary depending on the rate and volume of blood loss. Recognizing these signs is crucial for early detection and intervention.

Acute Blood Loss Symptoms

• Rapid drop in blood pressure
• Dizziness or lightheadedness
• Weakness and fatigue
• Pale skin and mucous membranes
• Rapid heart rate
• Shortness of breath

Chronic Blood Loss Symptoms

• Gradual onset of fatigue
• Shortness of breath, especially during physical activity
• Pale skin
• Weakness
• Headaches
• Cold hands and feet

Can anemia due to excessive bleeding lead to serious complications. Yes, severe or prolonged anemia resulting from blood loss can lead to serious complications. These may include:

1. Heart problems, including heart failure or heart attacks
2. Stroke
3. Cognitive impairment
4. Pregnancy complications
5. Decreased quality of life

Diagnostic Approaches for Anemia Due to Excessive Bleeding

Accurately diagnosing anemia due to excessive bleeding requires a comprehensive approach that combines patient history, physical examination, and various diagnostic tests.

Medical History and Physical Examination

A thorough medical history can provide valuable clues about potential sources of bleeding. Doctors may inquire about recent injuries, surgeries, menstrual patterns, and gastrointestinal symptoms. Physical examination may reveal signs of anemia such as pallor, tachycardia, or subtle indications of bleeding.

Laboratory Tests

• Complete blood count (CBC)
• Iron studies (serum iron, ferritin, total iron-binding capacity)
• Reticulocyte count
• Stool occult blood test

Imaging Studies

Depending on the suspected source of bleeding, various imaging studies may be employed:

• Endoscopy (upper GI and colonoscopy)
• CT scans
• MRI
• Angiography

How do doctors determine the source of occult bleeding. To identify the source of occult bleeding, doctors may use a combination of tests, including fecal occult blood tests, endoscopic procedures, and imaging studies. In some cases, capsule endoscopy or specialized radiological techniques may be necessary to locate elusive sources of bleeding in the small intestine.

Treatment Strategies for Anemia Due to Excessive Bleeding

The treatment of anemia due to excessive bleeding focuses on two main objectives: addressing the underlying cause of bleeding and replenishing lost blood and iron stores.

Addressing the Underlying Cause

Treatment approaches vary depending on the source of bleeding:

• Surgical intervention for traumatic injuries or tumors
• Medication for ulcers or inflammatory conditions
• Endoscopic procedures to treat gastrointestinal bleeding
• Hormonal therapies for heavy menstrual bleeding

Blood Transfusions

In cases of severe anemia or acute blood loss, blood transfusions may be necessary to quickly restore blood volume and oxygen-carrying capacity.

Iron Supplementation

Iron supplements are often prescribed to replenish iron stores and support red blood cell production. These may be administered orally or intravenously, depending on the severity of anemia and the patient’s ability to absorb oral iron.

Are there any risks associated with blood transfusions for treating anemia. While blood transfusions can be life-saving, they do carry some risks, including:

• Allergic reactions
• Infection transmission (although rare with modern screening methods)
• Iron overload with repeated transfusions
• Transfusion-related acute lung injury (TRALI)

Healthcare providers carefully weigh the benefits and risks of transfusions for each patient.

Preventing Anemia Due to Excessive Bleeding

While not all cases of anemia due to excessive bleeding can be prevented, certain measures can reduce the risk or catch the condition early.

Regular Health Check-ups

Routine medical examinations and blood tests can help detect anemia or underlying conditions that may lead to blood loss before they become severe.

Healthy Lifestyle Choices

• Maintaining a balanced diet rich in iron and other essential nutrients
• Avoiding excessive alcohol consumption, which can contribute to gastritis and ulcers
• Quitting smoking, as it can increase the risk of certain bleeding disorders

Proper Management of Chronic Conditions

Effectively managing conditions such as peptic ulcers, inflammatory bowel disease, or heavy menstrual bleeding can help prevent chronic blood loss and subsequent anemia.

How often should individuals undergo screening for anemia. The frequency of anemia screening depends on individual risk factors, age, and overall health status. Generally, it’s recommended that:

• Women of childbearing age be screened every 5-10 years
• Pregnant women be screened at their first prenatal visit
• Men and postmenopausal women discuss screening with their healthcare provider based on their risk factors

Living with Anemia Due to Excessive Bleeding

Managing anemia due to excessive bleeding often requires ongoing care and lifestyle adjustments. Patients can take several steps to improve their quality of life and support their treatment plan.

Dietary Considerations

A diet rich in iron and other nutrients that support red blood cell production can help manage anemia. Key dietary recommendations include:

• Iron-rich foods such as lean meats, beans, and leafy green vegetables
• Vitamin C-rich foods to enhance iron absorption
• Avoiding foods that can interfere with iron absorption, such as coffee and tea, when consuming iron-rich meals

Physical Activity and Exercise

While anemia can cause fatigue, maintaining an appropriate level of physical activity is important for overall health. Patients should:

• Consult with their healthcare provider about safe exercise routines
• Start with low-intensity activities and gradually increase as tolerated
• Listen to their body and rest when necessary

Monitoring and Follow-up Care

Regular follow-up appointments and blood tests are crucial for managing anemia due to excessive bleeding. These check-ups allow healthcare providers to:

• Assess the effectiveness of treatment
• Adjust medication dosages as needed
• Monitor for any recurrence of bleeding or complications

How can patients effectively communicate their symptoms to healthcare providers. Effective communication with healthcare providers is essential for optimal management of anemia. Patients should:

1. Keep a symptom diary to track changes in energy levels, shortness of breath, or other symptoms
2. Be specific about the timing and severity of symptoms
3. Report any new or worsening symptoms promptly
4. Ask questions about their condition and treatment options
5. Inform their provider about any difficulties adhering to the treatment plan

Advances in Diagnosis and Treatment of Anemia Due to Excessive Bleeding

The field of hematology continues to evolve, bringing new innovations in the diagnosis and treatment of anemia due to excessive bleeding.

Diagnostic Advancements

Recent technological developments have enhanced our ability to diagnose and locate sources of bleeding:

• Capsule endoscopy for visualizing the small intestine
• Advanced imaging techniques such as CT enterography
• Genetic testing for inherited bleeding disorders

Emerging Treatment Options

New treatment approaches are being developed to manage anemia more effectively:

• Novel iron formulations with improved absorption and fewer side effects
• Gene therapies for certain inherited bleeding disorders
• Advanced hemostatic agents for controlling severe bleeding

Personalized Medicine Approaches

The future of anemia treatment lies in personalized medicine, tailoring interventions to individual patients based on their genetic profile, lifestyle factors, and specific causes of bleeding.

What role does artificial intelligence play in the diagnosis and management of anemia due to excessive bleeding. Artificial intelligence (AI) is increasingly being utilized in various aspects of anemia diagnosis and management:

• AI algorithms can analyze blood test results to identify patterns indicative of specific types of anemia
• Machine learning models can assist in predicting treatment outcomes and optimal dosing strategies
• AI-powered imaging analysis can help detect subtle abnormalities that may indicate sources of bleeding
• Natural language processing can extract relevant information from medical records to support clinical decision-making

As these technologies continue to advance, they have the potential to significantly improve the accuracy and efficiency of anemia diagnosis and treatment.

Anemia Due to Excessive Bleeding – Blood Disorders

By

Evan M. Braunstein

, MD, PhD, Johns Hopkins University School of Medicine

Reviewed/Revised Jul 2022 | Modified Sep 2022

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Anemia due to excessive bleeding results when loss of red blood cells exceeds production of new red blood cells.

• When blood loss is rapid, blood pressure falls, and people may be dizzy.

• When blood loss occurs gradually, people may be tired, short of breath, and pale.

• Stool, urine, and imaging tests may be needed to determine the source of bleeding.

• The cause of bleeding is corrected, and transfusions and iron supplements are given if needed.

The most common cause of anemia Overview of Anemia Anemia is a condition in which the number of red blood cells is low. Red blood cells contain hemoglobin, a protein that enables them to carry oxygen from the lungs and deliver it to all parts… read more is

• Excessive bleeding

When blood is lost, the body quickly pulls water from tissues outside the bloodstream in an attempt to keep the blood vessels filled. As a result, the blood is diluted, and the hematocrit (the percentage of red blood cells in the total amount of blood in the body, or blood volume) is reduced. Eventually, increased production of red blood cells by the bone marrow may correct the anemia. However, over time, bleeding reduces the amount of iron in the body, so that the bone marrow is not able to increase production of new red blood cells to replace those lost.

The symptoms may be severe initially, especially if anemia develops rapidly as a result of the sudden loss of blood due to an injury, surgery, childbirth, or a ruptured blood vessel. Losing large amounts of blood suddenly can create two problems:

• Blood pressure falls Low Blood Pressure Low blood pressure is blood pressure low enough to cause symptoms such as dizziness and fainting. Very low blood pressure can cause damage to organs, a process called shock. Various drugs and… read more because the amount of fluid left in the blood vessels is insufficient.

• The body’s oxygen supply is drastically reduced because the number of oxygen-carrying red blood cells has decreased so quickly.

Either problem may lead to a heart attack Acute Coronary Syndromes (Heart Attack; Myocardial Infarction; Unstable Angina) Acute coronary syndromes result from a sudden blockage in a coronary artery. This blockage causes unstable angina or a heart attack (myocardial infarction), depending on the location and amount… read more , stroke Overview of Stroke A stroke occurs when an artery to the brain becomes blocked or ruptures, resulting in death of an area of brain tissue due to loss of its blood supply (cerebral infarction) and symptoms that… read more , or death.

Far more common than a sudden loss of blood is long-term (chronic) bleeding, which may occur from various parts of the body. Although large amounts of bleeding, such as that from nosebleeds and hemorrhoids, are obvious, small amounts of bleeding may not be noticed. For example, a small amount of blood may not be visible in the stool. This type of blood loss is described as occult (hidden). If a small amount of bleeding continues for a long time, a significant amount of blood may be lost. Such gradual bleeding may occur with common disorders, such as ulcers Peptic Ulcer Disease A peptic ulcer is a round or oval sore where the lining of the stomach or duodenum has been eaten away by stomach acid and digestive juices. Peptic ulcers can result from infection with Helicobacter… read more in the stomach or small intestine, polyps Polyps of the Colon and Rectum A polyp is a projecting growth of tissue from the wall of a hollow space, such as the intestines. Some polyps are caused by hereditary conditions. Bleeding from the rectum is the most common… read more in the large intestine, or cancers in the large intestine Colorectal Cancer Family history and some dietary factors (low fiber, high fat) increase a person’s risk of colorectal cancer. Typical symptoms include bleeding during a bowel movement, fatigue, and weakness… read more . Other sources of chronic bleeding include kidney tumors Kidney Cancer Most solid kidney tumors are cancerous, but purely fluid-filled tumors (cysts) generally are not. Almost all kidney cancer is renal cell carcinoma. Another kind of kidney cancer, Wilms tumor… read more or bladder tumors Bladder Cancer Most bladder cancers are of a type called transitional cell because they affect the same kinds of cells (transitional cells) that are usually the cancerous cells responsible for cancers of the… read more , which may cause blood to be lost in the urine, and heavy menstrual bleeding Abnormal Uterine Bleeding (AUB) Abnormal uterine bleeding in women of childbearing age is bleeding from the uterus that does not follow the normal pattern for menstrual cycles. That is, it occurs too frequently or irregularly… read more .

Symptoms are similar to those of other types of anemia and vary from mild to severe, depending on

When the blood loss is rapid—over several hours or less—loss of just one third of the blood volume can be fatal. Dizziness upon sitting or standing after a period of lying down (orthostatic hypotension) is common when blood loss is rapid. When the blood loss is slower—over several weeks or longer—loss of up to two thirds of the blood volume may cause only fatigue and weakness or no symptoms at all, if the person drinks enough fluids.

Other symptoms may occur as a result of the bleeding or the disorder that causes the bleeding. People may notice black, tarry stools if they have bleeding from the stomach or small intestine. Bleeding from the kidneys or bladder may cause red or brown urine. Women may notice long, heavy menstrual periods. Some disorders that cause chronic bleeding, such as stomach ulcers, cause abdominal discomfort. Other disorders, such as diverticulosis Diverticulosis of the Large Intestine Diverticulosis is the presence of one or more balloon-like sacs (diverticula), usually in the large intestine (colon). The cause of diverticulosis is unknown but may be related to diet, a sedentary. .. read more and intestinal cancers and polyps at an early stage, cause no symptoms.

Doctors do blood tests to detect anemia when people describe symptoms of anemia, have noticed bleeding, or both. Stool and urine are tested for blood in an effort to identify the source of bleeding.

Imaging tests or endoscopy may be needed to identify the source of bleeding.

For large or rapid blood loss, the source of bleeding must be found and the bleeding stopped. Transfusion of red blood cells Red blood cells People are sometimes given transfusions of whole blood during severe bleeding (for example after an injury or pregnancy complications), but usually they are given only the blood component they… read more may be needed.

With slow or small blood loss, the body may produce enough red blood cells to correct the anemia without the need for blood transfusions once the bleeding is stopped.

Because iron, which is required to produce red blood cells, is lost as a result of bleeding, most people who have anemia due to bleeding need to take iron supplements, usually tablets, for several months. Sometimes people are given iron intravenously.

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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.

Iron deficiency anemia (IDA). Causes, clinical and laboratory manifestations of IDA. — St. Petersburg State Budgetary Institution of Healthcare “Dermatovenerological Dispensary No. 4”

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).

”

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.