Sickle Cell Disease | Johns Hopkins Medicine

What is sickle cell disease?

Sickle cell disease is an inherited blood disorder. It is marked by flawed hemoglobin. That’s the protein in red blood cells that carries oxygen to the tissues of the body. So, sickle cell disease interferes with the delivery of oxygen to the tissues.

Red blood cells with normal hemoglobin are smooth, disk-shaped, and flexible, like doughnuts without holes. They can move through the blood vessels easily. Cells with sickle cell hemoglobin are stiff and sticky. When they lose their oxygen, they form into the shape of a sickle or crescent, like the letter C. These cells stick together and can’t easily move through the blood vessels. This can block small blood vessels and the movement of healthy, normal oxygen-carrying blood. The blockage can cause pain.

Normal red blood cells can live up to 120 days. But, sickle cells only live for about 10 to 20 days. Also, sickle cells may be destroyed by the spleen because of their shape and stiffness. The spleen helps filter the blood of infections. Sickled cells get stuck in this filter and die. With less healthy red blood cells circulating in the body, you can become chronically anemic. The sickled cells also damage the spleen. This puts you are at greater at risk for infections.

What causes sickle cell disease?

Sickle cell is an inherited disease caused by a defect in a gene.

• A person will be born with sickle cell disease only if two genes are inherited—one from the mother and one from the father.
• A person who inherits just one gene is healthy and said to be a “carrier” of the disease. A carrier has an increased chance of having a child with sickle cell disease if he or she has a child with another carrier. 

For parents who are each carriers of a sickle cell gene, there is a 1 in 4, or a 25 % chance of having a child with sickle cell disease.

What are the risk factors for sickle cell disease?

Having a family history of sickle cell disease increases your risk for the disease. In the United States, it mainly affects African Americans.

What are the symptoms of sickle cell disease?

The following is a list of symptoms and complications associated with sickle cell disease. However, each person may experience symptoms differently. Symptoms and complications may include:

• Anemia. Because sickled cells are short-lived or destroyed, there are less red blood cells available in the body. This results in anemia. Severe anemia can make you feel dizzy, short of breath, and tired.
• Pain crisis, or sickle crisis. This occurs when the flow of blood is blocked to an area because the sickled cells have become stuck in the blood vessel. The pain can occur anywhere, but most often occurs in the chest, arms, and legs. Infants and young children may have painful swelling of the fingers and toes. Interruption in blood flow may also cause tissue death.
• Acute chest syndrome. This occurs when sickling occurs in the chest. This can be life-threatening. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. The sickled cells stick together and block the flow of oxygen in the tiny vessels in the lungs. It resembles pneumonia and can include fever, pain, and a violent cough.
• Splenic sequestration (pooling). Crises are a result of sickle cells pooling in the spleen. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. The spleen can also become enlarged and painful from the increase in blood volume. After repeated episodes,  the spleen becomes scarred, and permanently damaged. Most children, by age 8, do not have a working spleen either from surgical removal, or from repeated episodes of splenic sequestration. The risk of infection is a major concern of children without a working spleen. Infection is the major cause of death in children younger than age 5 in this population.
• Stroke. This is another sudden and severe complication of people with sickle cell disease. The misshapen cells can block the major blood vessels that supply the brain with oxygen. Any interruption in the flow of blood and oxygen to the brain can result in severe brain damage. If you have one stroke from sickle cell anemia, you are more likely to have a second and third stroke.
• Jaundice, or yellowing of the skin, eyes, and mouth. Jaundice is a common sign and symptom of sickle disease. Sickle cells do not live as long as normal red blood cells and, therefore, they are dying faster than the liver can filter them out. Bilirubin (which causes the yellow color) from these broken down cells builds up in the system causing jaundice.
• Priapism.  This is a painful obstruction of the blood vessels in the penis by sickle cells. If not promptly treated, it can result in impotence.

The symptoms of sickle cell disease may look like other blood disorders or medical problems. Always consult your health care provider for a diagnosis.

How is sickle cell disease diagnosed?

Along with a complete medical history and physical exam, you may have blood and other tests.

Many states routinely screen newborns for sickle cell so that treatment can begin as soon as possible. Early diagnosis and treatment can reduce the risk of complications.

Hemoglobin electrophoresis is a blood test that can determine if a person is a carrier of sickle cell, or has any of the diseases associated with the sickle cell gene.

How is sickle cell disease treated?

Your doctor will consider your age, overall health and other factors when determining the best treatment for you.

Early diagnosis and prevention of complications is critical in sickle cell disease treatment. Treatment aims to prevent organ damage including strokes, prevent infection, and treat symptoms. Treatment may include:

• Pain medications. This is for sickle cell crises.
• Drinking plenty of water daily (8 to 10 glasses). This is to prevent and treat pain crises. In some situations, intravenous fluids may be required.  
• Blood transfusions. These may help treat anemia and prevent stroke. They are also used to dilute the sickled hemoglobin with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.
• Vaccinations and antibiotics. These are used to prevent infections.
• Folic acid. Folic acid will help prevent severe anemia.
• Hydroxyurea. This medication helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for blood transfusions. The long-term effects of the medication are unknown.
• Regular eye exams. These are done to screen for retinopathy.  
• Bone marrow transplant. Bone marrow transplants can cure some people with sickle cell disease. The decision to have this procedure is based on the severity of the disease and ability to find a suitable bone marrow donor. These decisions need to be discussed with your doctor and are only done at specialized medical centers.

What are the complications of sickle cell disease?

Any and all major organs are affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones, and joints can suffer damage from the abnormal function of the sickle cells and their inability to flow through the small blood vessels correctly. Problems may include the following:

• Increased infections
• Leg ulcers
• Bone damage
• Early gallstones
• Kidney damage and loss of body water in the urine
• Eye damage
• Multiple organ failure

Living with sickle cell disease

Sickle cell disease is a life-long condition. Although the complications of sickle cell disease may not be able to be prevented entirely, living a healthy life-style can reduce some of the complications.

It is important to eat a healthy diet with lots of fruits, vegetables, whole grains, and protein, and drink lots of fluids.

Do not take decongestants because they cause constriction of blood vessels and could trigger a crisis.

Other factors that may trigger a crisis include high altitudes, cold weather, swimming in cold water, and heavy physical labor.

Avoid infections by getting an annual flu shot, washing your hands frequently, avoiding those who are sick, and getting regular dental exams.

Key points

• Sickle cell disease is an inherited blood disorder marked by defective hemoglobin.
• It inhibits the ability of hemoglobin in red blood cells to carry oxygen.
• Sickle cells tend to stick together, blocking small blood vessels causing painful and damaging complications.
• Sickle cell disease is treated with pain medications as needed, drinking 8 to 10 glasses of water each day, blood transfusions, and medications.

Next steps

Tips to help you get the most from a visit to your health care provider:

• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your provider if you have questions.

Practical Tips for Preventing a Sickle Cell Crisis

Am Fam Physician. 2000;61(5):1363-1364

See related article on sickle cell disease.

What is sickle cell disease?

Sickle cell disease is a hereditary problem that causes a type of faulty hemoglobin in red blood cells. Hemoglobin carries oxygen in the blood.

Normal red blood cells are disc-shaped and very flexible. In sickle cell disease, some red blood cells can change shape so that they look like sickles or crescent moons. Because of their shape, they don’t move well through the smallest blood vessels. This can stop or slow blood flow to parts of the body, causing less oxygen to reach these areas.

What is a sickle cell crisis?

A sickle cell crisis is pain that can begin suddenly and last several hours to several days. It happens when sickled red blood cells block small blood vessels that carry blood to your bones. You might have pain in your back, knees, legs, arms, chest or stomach. The pain can be throbbing, sharp, dull or stabbing. How often and how bad the pain gets varies a lot from person to person and from crisis to crisis.

You might be able to treat your pain crisis at home with medicines that you take by mouth. If these medicines don’t control your pain, you can’t keep fluids down or you know that you’re having severe pain, you might need to be treated in the emergency department. If your pain still isn’t controlled or you have other problems, you might need to be treated in the hospital.

What causes a sickle cell crisis?

Most of the time, you won’t know what caused your sickle cell crisis. A crisis usually has more than one cause. However, you can do several things that might keep a crisis from occurring:

• Don’t drink a lot of alcohol.

• Don’t smoke. If you do smoke, quit.

• Exercise regularly but not so much that you become really tired. When you exercise, drink lots of fluids.

• Drink at least eight 12-ounce glasses of water a day during warm weather.

• Reduce or avoid stress. Talk to your doctor if you’re depressed or have problems with your family or job.

• Treat any infection as soon as it occurs. When in doubt, see your doctor.

• Wear warm clothes outside in cold weather and inside in air-conditioned rooms during hot weather. Also, don’t swim in cold water.

• Try to be positive about yourself.

• Tell your doctor if you think you might have a sleep problem, such as snoring or if you sometimes stop breathing during sleep.

• If you have another medical condition, like diabetes, get treatment and control the condition.

• If you are pregnant or plan to become pregnant, get early prenatal care.

• Only travel in commercial airplanes. If you have to travel in an unpressurized aircraft, talk to your doctor about extra precautions.

What medicines can I use at home to control my pain?

Some over-the-counter medicines might help relieve mild pain. Taking acetaminophen (brand name: Tylenol) or aspirin might help. Medicines like ibuprofen (brand names: Advil or Motrin) or naproxen sodium (brand name: Aleve) might help if you can safely take these medicines. However, talk to your doctor before you take any medicine for your pain.

If you have moderate to severe pain, your doctor might prescribe a mild narcotic like codeine. This medicine is often given with aspirin or acetaminophen. You take this medicine regularly, around the clock, rather than waiting for the pain to return before taking your next dose.

What else can I do to control the pain?

A heating pad, hot bath, rest or massage might help. Physical therapy to relax and strengthen your muscles and joints might lessen your pain. Individual counseling, self-hypnosis and activities to keep you from thinking about your pain (such as watching television or talking on the telephone) might also help.

It’s important for you to have a positive attitude, create a supportive environment, and develop coping skills to help you deal with your disease. Strong family relationships and close personal friends can be helpful. A support group might help you cope with your disease.

Work with your family doctor to set goals for the management of your pain. Becoming more actively involved in your treatment will help you better manage your disease.

Where can I get more information about sickle cell disease?

First, talk to your doctor. You can also get information and support from the following organization:

• Sickle Cell Disease Association of America, Inc.

• 200 Corporate Pointe, Suite 495

• Culver City, CA 90230-8727

• Telephone number: 1-310-216-6363 or 1-800-421-8453

• Fax number: 1-310-215-3722

• E-mail: [email protected]

• Web site: http://www.sicklecelldisease.org

Sickle cell anemia: causes, symptoms, treatments

Contents

• 1 Sickle cell anemia
  • 1.1 Sickle cell anemia
  • 1.2 Causes

  9000 5 1.3 Symptoms

  • 1.4 Methods of treatment
  • 1.5 Risk factors
  • 1.6 Diagnostics
  • 1.7 Prognosis
  • 1. 8 Complications
  • 1.9 Prevention
  • 1.10 Research
  • 1.11 Patient support
  • sickle cell anemia
  • 1.13 Related videos:
  • 1.14 Q&A:
    • • 1.14.0.1 What is sickle cell anemia?
      • 1.14.0.2 How is sickle cell anemia transmitted?

Sickle cell anemia is a chronic hereditary disease characterized by an altered form of red blood cells and reduced hemoglobin content. Responsive article about pathology, its symptoms, causes and methods of treatment.

Sickle cell anemia is an inherited blood disorder characterized by unusually shaped red blood cells. Instead of the usual round shape, red blood cells in sickle cell anemia take on a crescent-shaped, sickle-like shape. This causes various problems with blood circulation and delivers less oxygen to organs and tissues.

The cause of sickle cell anemia is an altered structure of the genetic material responsible for the formation of hemoglobin, the protein that carries oxygen in the body. This hereditary disease is passed from parent to child, and for a child to inherit sickle cell anemia, both parents must be carriers of the corresponding gene.

Symptoms of sickle cell anemia can vary and are associated with insufficient oxygen in the body. There is increased fatigue, general weakness and apathy. Also, patients may experience crises of pain in various parts of the body, including the head, back and abdomen. Most often, symptoms occur after exercise or stress.

Treatment of sickle cell disease is aimed at relieving symptoms, preventing complications, and improving the patient’s quality of life. It includes taking drugs to increase the number and normalize the shape of red blood cells, regular medical supervision, as well as the use of anti-anemic drugs and anti-inflammatory drugs.

Sickle cell anemia

Sickle cell anemia is a genetic disease characterized by a disorder in the shape of red blood cells and their function. The main reason for the development of this disease is the presence of a mutation in the HbS gene, which is responsible for the synthesis of hemoglobin. As a result of this mutation, erythrocytes acquire the shape of a sickle, which leads to their increased destruction and impaired blood flow.

Treatment of sickle cell anemia is aimed at relieving symptoms, preventing complications, and improving the patient’s quality of life. The main treatments include medications to control pain and prevent infections, regular blood transfusions, and stem cell transplants. At the same time, treatment should be comprehensive and individually selected for each patient, based on his age, state of health and characteristics of the course of the disease. It is also important to maintain a healthy lifestyle, including proper nutrition, regular physical activity and the rejection of bad habits.

Modern medicine is actively researching new treatments for sickle cell anemia, including genetic therapy and the use of new drugs. However, this disease still remains a serious problem in the world, especially in countries with low levels of medical care and limited access to treatment.

Causes

Sickle cell anemia is a genetic disease that is inherited. It is caused by a mutation in the hemoglobin beta-globin chain gene. This gene is responsible for the synthesis of the protein hemoglobin, which is necessary for the transfer of oxygen to all organs and tissues of the body.

Sickle cell anemia results from an amino acid change in the hemoglobin protein structure. Usually, the hemoglobin backbone consists of the amino acids glutamine, but in patients with this form of anemia, one of these amino acids is replaced by valine. This leads to the formation of abnormal hemoglobin S, which, under unusual conditions, folds and forms hemoglobin crystals.

There is also a risk of developing sickle cell anemia in children whose parents are carriers of hemoglobin gene mutations. In the presence of one mutational gene, the risk of the disease is about 25%. However, those who carry the gene do not develop anemia, but they can pass it on to their children.

Risk factors for the development of sickle cell anemia can also be considered the finding of one of the parents in the zone of high predisposition to this disease, African, Indian, Arab, Mediterranean origin.

It is important to remember that sickle cell anemia is inherited and cannot result from an accident or infection.

Symptoms

Sickle cell anemia is a genetic disorder that can present with a variety of symptoms. One of the most characteristic symptoms is pain in the joints and bones. This happens because the defective crescent-shaped red blood cells make it difficult to pass through the capillaries, resulting in impaired blood supply and pain.

In addition, sickle cell anemia can cause fatigue and weakness in patients. This is due to the fact that sickle cells have a shorter lifespan, and the blood supply to organs and tissues can be disrupted due to their shape.

Other symptoms seen in patients with sickle cell disease may include increased susceptibility to infections, growth and developmental delay in children whose life expectancy is usually shortened.

All of these symptoms can manifest themselves in various combinations and variants of the course of the disease, depending on the specific characteristics of the patient. It is important to consult a doctor in a timely manner for diagnosis and treatment.

Methods of treatment

Sickle cell anemia is a chronic genetic blood disorder that has no cure. However, modern medicine offers a range of treatments aimed at reducing symptoms and improving the patient’s quality of life.

The main treatment for sickle cell disease is crisis management. Crises associated with obstruction of blood vessels are one of the main problems in this disease. Analgesics, anti-inflammatory drugs, and sedatives may be prescribed to alleviate such crises.

To improve the quality of life of patients with sickle cell anemia, it is important to follow a number of recommendations for maintaining a healthy lifestyle. Regular intake of vitamins, especially folic acid, can help improve blood health. It is also recommended to avoid hypothermia and overheating, control physical activity and regularly undergo medical examinations.

In some cases where other treatments do not work, a bone marrow transplant may be considered. This is a serious procedure that can require a long recovery period and has its own risks, but it can be effective for severe sickle cell anemia.

Risk factors

There are a number of factors that can increase the risk of developing sickle cell anemia:

1. Heredity: The main and most significant risk factor is hereditary predisposition. This form of anemia is inherited as a recessive gene, so for the development of the disease, two copies of the defective gene must be present in the child.
2. Geographical distribution: Sickle cell anemia is more common in countries with a warm climate, such as Africa, India, Madagascar, Arabian Peninsula.
3. Ethnicity: Blacks and some other ethnic groups are more likely to develop sickle cell anemia.
4. Folate deficiency: Low levels of folate (vitamin B9) in the body can exacerbate the symptoms of sickle cell anemia and cause it to worsen.
5. Thrombocytopenia: Certain disorders of platelet function in patients may increase the risk of thrombosis and the development of serious complications.

It is important to understand that the presence of one or more risk factors does not guarantee the development of sickle cell anemia. These factors only increase the likelihood of the occurrence of the disease, and an individual approach to each patient is necessary for accurate diagnosis and treatment of this condition.

Diagnostics

Diagnosis of sickle cell anemia includes several stages that allow you to determine the presence and degree of development of this disease.

Laboratory tests are carried out to make a diagnosis. The main diagnostic method is a blood test for hemoglobin S, which determines the presence of an abnormal form of hemoglobin, characteristic of sickle cell anemia.

In addition, a hematological blood profile study can be performed, which includes analysis of hemoglobin, erythrocytes, leukocytes, platelets, as well as measurement of the hemoglobin index and examination of the morphology of red blood cells.

If necessary, an additional ultrasound examination of the organs may be ordered to detect the presence of complications associated with sickle cell anemia.

Prognosis

The prognosis of sickle cell anemia depends on various factors, including the severity and frequency of pain attacks, the presence of complications, and the effectiveness of treatment.

Most patients with sickle cell disease can be stabilized with proper care, constant medical supervision, and regular medication.

However, sickle cell anemia is a chronic disease and even with proper treatment, attacks of pain and other symptoms can occur intermittently. Some patients may also experience complications such as infections, hypoxia, and organ damage.

It is important to remember that every case of sickle cell disease is different and the prognosis can vary greatly depending on the individual situation. Regular consultation with a doctor and compliance with all his recommendations are an important condition for improving the prognosis and improving the patient’s quality of life.

Complications

Sickle cell anemia can lead to various complications that can seriously affect the health of the patient. One of these complications is acute pain syndrome. During a crisis, intense pain occurs, mainly in the back, chest and abdomen. They can be so severe that they lead to hospitalization and require the appointment of strong analgesics.

Another complication that can occur with sickle cell anemia is organ damage due to lack of oxygen. Red blood cells at the same time impede the circulation of blood and oxygen throughout the body. This can cause damage to the heart, lungs, kidneys, and other organs.

The third possible complication is the development of infections. Due to the lack of normal red blood cells, patients with bad cells become more prone to infections. In addition, such patients are more susceptible to bacterial infections, especially infections caused by pneumococci and herpes.

Prevention

Sickle cell anemia is a genetic disease, so prevention aims to reduce the risk of passing the genetic mutation from parent to offspring.

An important point in prevention is marriage. If one of the parents is a carrier of a genetic mutation, genetic counseling is recommended before pregnancy is planned. Doctors can help assess the risk of having a baby with sickle cell anemia and advise on the possibility of artificial insemination or adoption.

For patients with sickle cell anemia, it is especially important to avoid extreme conditions that can cause pain crises. It is necessary to take into account weather conditions, avoid overheating or hypothermia, and also monitor the level of oxygen in the body.

If there is a family history of sickle cell anemia, genetic testing is recommended prior to pregnancy to determine if the genetic mutation is likely to be passed on to offspring. This will allow you to make an informed decision about the possibility of pregnancy and carry out the necessary prevention for the health of the unborn child.

Research

Sickle cell anemia is a hereditary disease that is manifested by a violation of the shape and properties of red blood cells. To determine the diagnosis and assess the severity of the disease, special studies and analyzes are carried out.

One of the main research methods is a blood test for the presence of abnormal red blood cells. In sickle cell anemia, the shape of the red blood cells becomes altered, which can be seen with a microscopic examination of the blood.

Genetic testing is done to determine if there are genetic mutations that cause sickle cell anemia. In this case, special attention is paid to the Globin Beta gene.

To assess the patient’s condition and identify comorbidities, additional studies may be performed, such as a complete urinalysis, a biochemical blood test, an electrocardiogram, and others.

Patient support

Support for patients with sickle cell anemia plays an important role in improving their quality of life. This rare genetic disease requires constant monitoring and careful attention to your health.

Access to information is one of the key aspects of supporting patients with sickle cell anemia. Patients should be aware of their condition, symptoms, causes of illness, and available treatments. To do this, specialized resources have been developed that provide up-to-date information and advice.

In addition to information, patients also need emotional support. Sickle cell anemia can have a significant impact on a patient’s psychological well-being, so it’s important that they can communicate with other people suffering from the disease. Support groups and online forums can be helpful tools to share experiences and get support from people who are going through the same difficulties.

An equally important aspect of support is access to qualified specialists. Patients need constant medical supervision and regular consultations. Specialists familiar with sickle cell anemia can provide optimal treatment and care advice. In addition, patients can contact genetic consultants to receive information about the risk of transmission of the disease to offspring and the possibility of taking preventive measures.

In general, support for patients with sickle cell disease includes information, emotional support, and medical supervision. With comprehensive support, patients can better cope with their disease and live full and active lives.

Pregnancy and sickle cell anemia

Sickle cell anemia (SCD) is a genetic disorder characterized by changes in the shape of red blood cells.

Pregnancy can have serious consequences for women with SCD. During pregnancy, levels of the hormone estrogen rise, which can contribute to an increase in blood viscosity. In women with SCD, this can lead to blood clots and prevent normal circulation.

Increased blood viscosity can lead to problems with the delivery of oxygen and nutrients to the fetus. This can cause a slowdown in the growth and development of the fetus, as well as lead to premature birth.

In addition, women with SCD are also at increased risk of hypertension and preeclampsia during pregnancy. This is due to impaired blood flow in the uterus and placenta.

Women with SCD are also advised to avoid overheating and overworking, which can cause SCD crises. Reasonable physical exercise and regular intake of moisture will help maintain normal blood circulation and reduce the risk of complications.

Related videos:

Q&A:

What is sickle cell anemia?

Sickle cell anemia (SCA) is a genetic blood disorder characterized by changes in the shape of red blood cells. Instead of the usual round shape, red blood cells in SCD take the form of a crescent or crescent, which makes it difficult for them to move through the blood vessels and increases the risk of thrombosis and hemorrhage. In addition, sickle cell anemia is associated with impaired red blood cell function, which leads to chronic oxygen deficiency in the body and other serious health problems.

How is sickle cell anemia transmitted?

Sickle cell disease is inherited genetically. Parents who have the S gene can pass the gene on to their child. If both parents have the S gene, the child has a 25% chance of inheriting two S genes, leading to the development of SCD. If only one parent has the S gene and the other has the normal hemoglobin gene, the child will inherit only one S gene and will be a carrier of the disease but will not have SCD. The manifestation of sickle cell anemia depends on how severe the changes in the gene are considered.

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