Sickle cell anemia

Description

Sickle cell anemia is one of a group of disorders known as sickle cell disease. Affects the shape of red blood cells, which carry oxygen to all parts of the body.

Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like a sickle or crescent of the moon. These sickle cells also become rigid and sticky, which can slow or block the flow of blood.

The current focus of the treatment is to relieve pain, and help prevent complications of the disease. However, new treatments that can cure people of the disease.

Symptoms

The symptoms of sickle cell anemia often appear around 6 months of age. Vary from person to person and can change over time. Symptoms may include:

  • Anemia. Sickle cells break apart easily and die. Typical of red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells. This is known as anemia. Without enough red blood cells, the body may not get enough oxygen. This causes fatigue.
  • The episodes of pain.Periodic episodes of extreme pain, called pain crises, are one of the main symptoms of sickle cell anemia. The pain develops when sickle-shaped red blood cells block the flow of blood through the small blood vessels in the chest, abdomen, and joints. The pain varies in intensity and can last for a few hours to a few days. Some people have only a couple of pain crises a year. Others have a dozen or more a year. A severe pain crisis requires a stay in the hospital. Some people with sickle cell anemia also have chronic pain of bone and joint damage, ulcers and other causes.
  • Swelling of hands and feet. Sickle-shaped red blood cells block the blood circulation in the hands and feet, which can cause swelling.
  • Frequent infections. The spleen is important to protect against infections. Sickle cells can damage the spleen, which increases the risk of developing infections. Infants and children with sickle cell anemia commonly receive vaccines and antibiotics to prevent possible life-threatening infections, such as pneumonia.
  • Delayed growth or puberty. Red blood cells provide your body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
  • Vision problems. The small blood vessels that supply blood to the eyes may become plugged with sickle cells. This can damage the part of the eye that processes visual images, called the retina, and can lead to vision problems.

The episodes of pain. Periodic episodes of extreme pain, called pain crises, are one of the main symptoms of sickle cell anemia. The pain develops when sickle-shaped red blood cells block the flow of blood through the small blood vessels in the chest, abdomen, and joints.

The pain varies in intensity and can last for a few hours to a few days. Some people have only a couple of pain crises a year. Others have a dozen or more a year. A severe pain crisis requires a stay in the hospital.

Some people with sickle cell anemia also have chronic pain of bone and joint damage, ulcers and other causes.

When to see a doctor

Consult with your healthcare provider right away if you or your child has symptoms of sickle cell disease, such as fever or a stroke.

The infection often begins with a fever and can be fatal. Because children with sickle cell anemia are prone to infections, seek immediate medical attention for a fever higher than 101.5 ° f (38.5 degrees Celsius).

Seek emergency medical attention for symptoms of stroke, including:

  • One-sided paralysis or weakness of the face, arms, or legs.
  • Confusion.
  • Difficulty walking or talking.
  • Sudden vision changes.
  • Unexplained numbness.
  • Severe headache.

Causes

Sickle cell anemia is caused by a change in the gene that tells the body to make hemoglobin. Hemoglobin is the iron-rich compound in red blood cells that allows these cells to transport oxygen from the lungs to the rest of the body. The hemoglobin associated with sickle cell disease causes red blood cells to become rigid, sticky and misshapen.

For a child to have sickle cell anemia, both parents must carry one copy of the sickle cell gene and pass both copies to the child.

If only one parent passes the sickle cell gene to the child, that the child will have the sickle cell trait. With a hemoglobin gene and one sickle cell gene, people with the sickle cell trait make both typical of the hemoglobin and sickle cell hemoglobin.

Your blood may contain some sickle cells, but they usually do not have symptoms. They are the carriers of the disease. That means they can pass the gene on to their children.

Risk factors

For that a baby has sickle cell anemia, both parents must carry a sickle cell gene. In the united States, sickle cell disease occurs most commonly in people of African, Mediterranean and Middle Eastern descent.

Complications

Sickle cell anemia can lead to a series of complications, including:

  • Stroke. Sickle cells can block the flow of blood to the brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness. If your child has any of these signs or symptoms, seek medical attention immediately. A stroke can be fatal.
  • The acute chest syndrome. A lung infection or by sickle cells blocking blood vessels in the lungs can cause this life-threatening complication. Symptoms include chest pain, fever, and difficulty breathing. The acute chest syndrome may need emergency medical treatment.
  • Avascular necrosis. Sickle cells can block the blood vessels that supply blood to the bones. When the bones do not get enough blood, joints can narrow bones and can die. This can happen anywhere, but most commonly occurs in the hip.
  • The pulmonary hypertension. People with sickle cell anemia may develop high blood pressure in the lungs. This complication usually affects adults. Shortness of breath and fatigue are the most common symptoms of this condition, which can be fatal.
  • The organ damage. The sickle cells that block the flow of blood to the organs deprive the affected organs of blood and oxygen. In sickle cell anemia, the blood is low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including the kidneys, liver, and spleen, and can be fatal.
  • Splenic sequestration. Sickle cells can get trapped in the spleen, causing it to enlarge. This can cause abdominal pain in the left side of the body and can be deadly. Parents of children with sickle cell anemia can learn to locate and feel of your child's spleen enlargement.
  • Blindness. Sickle cells can block small blood vessels that supply blood to the eyes. With time, this can lead to blindness.
  • Ulcers of the leg. Sickle cell anemia can cause painful open sores on the legs.
  • Gallstones. The breakdown of red blood cells produces a substance called bilirubin. A high level of bilirubin in the body can lead to gallstones.
  • Priapism. Sickle cell anemia can cause pain, long duration of erections, known as priapism. Sickle cells can block the blood vessels in the penis, which can lead to impotence over time.
  • Deep vein thrombosis. Sickle red blood cells can cause blood clots, increasing the risk of a blood clot lodging in a deep vein, known as deep vein thrombosis. It also increases the risk of a blood clot lodging in the lung, known as a pulmonary embolism. Either can cause serious illness or even death.
  • Complications in pregnancy. Sickle cell anemia can increase the risk of high blood pressure and blood clots during pregnancy. You can also increase the risk of spontaneous abortion, premature delivery and low birth weight.

Prevention

If you carry the sickle cell trait, it can help to see a genetic counselor before becoming pregnant. A counselor can help you understand your risk of having a child with sickle cell anemia. You can also learn about the possible treatments, preventive measures, and reproductive options.

Sickle cell anemia

Diagnosis

A blood test can check the form of hemoglobin that underlies sickle cell anemia. In the united States, this blood test is part of routine newborn screening. But older children and adults can get tested too.

In adults, a blood sample is taken from a vein in the arm. In small children and babies, the blood sample is usually collected from a finger or heel. The example then goes to a lab to be tested for the sickle cell form of hemoglobin.

If you or your child has sickle cell disease, your healthcare provider may suggest other tests to check for possible complications of the disease.

If you or your child takes the sickle cell gene, probably refers to a genetic counselor.

The assessment of risk of stroke

A special type of ultrasound machine can reveal the risk of stroke in children. The test uses sound waves to measure the flow of blood to the brain. This painless test that can be used in children as young as 2 years of age. Regular blood transfusions can decrease the risk of stroke.

The tests to detect the sickle cell genes before birth

Sickle cell disease can be diagnosed in an unborn baby by sampling some of the amniotic fluid that surrounds the baby in the uterus. If you or your partner has sickle cell anemia or sickle cell trait, ask your health care team about this test.

Treatment

Management of sickle cell anemia is usually aimed at avoiding episodes of pain, relieve symptoms, and prevent complications. Treatments may include medications and blood transfusions. For some children and adolescents, a stem cell transplant can cure the disease. Gene therapies are also being developed that can provide the cure of people with sickle cell disease.

Medications

  • Hydroxyurea (Droxia, Hydrea). Daily hydroxyurea reduces the frequency of pain crisis and could reduce the need for blood transfusions and hospital stays. But it may increase the risk of infections. Do not take the medicine if you are pregnant.
  • L-glutamine oral powder (Endari). It helps in reducing the frequency of pain crises.
  • Crizanlizumab (Adakveo). This medication administered by injection, it can help to reduce the frequency of painful crises in adults and in children older than 16 years. Side effects can include nausea, pain in the joints, back pain, and fever.
  • Voxelotor (Oxbryta). This medication is used to treat sickle cell disease in adults and children 12 years and older. It is taken by mouth, this drug may also reduce the risk of anemia and improve the flow of blood throughout the body. Side effects may include headache, nausea, diarrhea, fatigue, rash, and fever.
  • To relieve the pain of medicines. Your health care professional may prescribe narcotics to relieve the pain during sickle cell pain crises.

The prevention of infections

Children with sickle cell anemia may receive penicillin of around 2 months to 5 years of age or older. This medicine may help prevent infections, such as pneumonia, which can be deadly to children with sickle cell anemia.

Adults who have sickle cell disease may need to take penicillin throughout their lives if they have had pneumonia or surgery to remove the spleen.

Childhood vaccines are important for the prevention of the disease in all children. Vaccines are even more important for children with sickle cell anemia, because infections can be serious.

Your child's health care team should ensure that your child receives all recommended childhood vaccines. These include vaccines against pneumonia, meningitis, hepatitis B, and the annual flu vaccine. Vaccines are also important for adults with sickle cell disease.

During the global threats to health, such as the COVID-19 pandemic, people with sickle cell disease should take extra precautions. These include staying at home as much as possible and for those who are eligible, to get vaccinated.

Surgical and other procedures

  • Blood transfusions.Red blood cell transfusions are used to treat and prevent complications, such as stroke, in people with sickle cell disease. In this procedure, red blood cells are removed from a supply of donated blood, then through a vein to a person with sickle cell anemia. This increases the number of red blood cells that are not affected by sickle cell anemia. This helps to reduce the symptoms and complications. The risks include an immune response to the donor's blood, which can make it difficult to find potential donors. The infection and the excessive accumulation of iron in the body, are other risks. Because excess iron can damage the heart, liver, and other organs, you may need treatment to reduce iron levels if you undergo regular transfusions.
  • The transplantation of stem cells.This is also known as bone marrow transplantation. The procedure involves the replacement of the bone marrow affected by sickle cell anemia with bone marrow from a donor. The procedure usually uses a compatible donor, as a brother, who does not have sickle cell anemia. A stem cell transplant can cure sickle cell anemia. Stem cell transplantation is recommended only for people, usually children, who have significant symptoms and complications of sickle cell anemia. The risks associated with the procedure are high and include death.
  • Stem cell gene, in addition to the therapy.In this treatment option, the person's stem cells are removed, and a gene to produce typical of the hemoglobin is injected. The stem cells are given to the person in a process known as autologous transplantation. This option can be a cure for people with sickle cell disease who do not have a compatible donor.
  • The gene-editing therapy.This Food and Drug Administration (FDA) has approved the treatment works by making changes in the DNA of a person's stem cells. The stem cells are extracted from the body, and the sickle gene is changed, also called edited, to help restore the ability of cells to make healthy red blood cells. The treatment of stem cells are returned to the body through the blood. This is called an infusion. People who are successfully treated with the edition of the therapy no longer have symptoms of sickle cell disease. This treatment is FDA-approved for people 12 years and older. The long-term effects of this new treatment are not yet known and will continue to be studied.

Blood transfusions. Red blood cell transfusions are used to treat and prevent complications, such as stroke, in people with sickle cell disease.

In this procedure, red blood cells are removed from a supply of donated blood, then through a vein to a person with sickle cell anemia. This increases the number of red blood cells that are not affected by sickle cell anemia. This helps to reduce the symptoms and complications.

The risks include an immune response to the donor's blood, which can make it difficult to find potential donors. The infection and the excessive accumulation of iron in the body, are other risks. Because excess iron can damage the heart, liver, and other organs, you may need treatment to reduce iron levels if you undergo regular transfusions.

The transplantation of stem cells. This is also known as bone marrow transplantation. The procedure involves the replacement of the bone marrow affected by sickle cell anemia with bone marrow from a donor. The procedure usually uses a compatible donor, as a brother, who does not have sickle cell anemia.

A stem cell transplant can cure sickle cell anemia. Stem cell transplantation is recommended only for people, usually children, who have significant symptoms and complications of sickle cell anemia. The risks associated with the procedure are high and include death.

Stem cell gene, in addition to the therapy. In this treatment option, the person's stem cells are removed, and a gene to produce typical of the hemoglobin is injected. The stem cells are given to the person in a process known as autologous transplantation. This option can be a cure for people with sickle cell disease who do not have a compatible donor.

The gene-editing therapy. This Food and Drug Administration (FDA) has approved the treatment works by making changes in the DNA of a person's stem cells. The stem cells are extracted from the body, and the sickle gene is changed, also called edited, to help restore the ability of cells to make healthy red blood cells. The treatment of stem cells are returned to the body through the blood. This is called an infusion.

People who are successfully treated with the edition of the therapy no longer have symptoms of sickle cell disease. This treatment is FDA-approved for people 12 years and older. The long-term effects of this new treatment are not yet known and will continue to be studied.

Clinical trials are in progress to address the stem cell transplantation in adults and gene therapies.

Self-care

The following steps to stay healthy can help you avoid the complications of sickle cell anemia:

  • Take folic acid supplements daily and choose a healthy diet. The bone marrow needs of folic acid and other vitamins to make new red blood cells. Ask your health care team about a supplement of folic acid and other vitamins. Eat a variety of fruits and vegetables, and whole grains.
  • Drink lots of water. Dehydration may increase your risk of a sickle cell pain crisis. Drink water throughout the day, with the aim of around eight glasses a day. Increase the amount of water you drink, if you exercise or spend time in a hot and dry climate.
  • Avoid extreme temperatures. Exposure to extreme heat or cold may increase your risk of a sickle cell pain crisis.
  • Exercise regularly, but don't overdo it. Ask your healthcare professional how much exercise is right for you.
  • Use a medication with caution. The use of pain medications such as ibuprofen (Advil, Motrin, others) or naproxen sodium (Aleve), with moderation, if at all, due to the potential effects on the kidneys. Ask your health care professional before taking any medication you can get without a prescription.
  • Do not smoke. Smoking increases the risk of pain crises.

Coping and support

If you or someone in your family has sickle cell anemia, these ideas can help you cope:

  • Find someone to talk to. Living with a chronic illness is stressful. Consider talking to a mental health professional, like a psychologist, counselor or social worker, to help deal with the situation.
  • Join a support group. Ask your health care team about support groups for families in your area. Talk with other people who face challenges similar to yours can be useful.
  • Explore ways to deal with the pain. Pain medication does not always fit all the pain. Work with your health care professional to find ways to control your pain. You can treat pads, hot baths, massage or physical therapy.
  • Learning about sickle cell disease to make informed decisions about the care. Learn as much as you can about the disease. Ask questions during your child's appointment. Ask your health care team to recommend good sources of information.

Preparing for your appointment

Sickle cell anemia is usually diagnosed through genetic screening test to do when a baby is born. The results of the test will probably be given to your primary healthcare professional, who may refer you to a doctor who specializes in disorders of the blood, called a hematologist or a pediatric hematologist.

Here is the information to help you prepare for your appointment.

What you can do

Make a list of:

  • Your symptoms, including any that seem unrelated to the reason for which you scheduled the appointment, and when they began.
  • Key personal information, including the medical history of the family and if someone has sickle cell anemia or trait of her.
  • Questions to ask your health care team.

Bring a family member or friend along, if possible, to help you remember the information they give you.

For sickle cell anemia, questions to ask your health care professional include:

  • What is the most likely cause of my symptoms?
  • There are other possible causes?
  • What tests are needed?
  • What treatments are available, and which do you recommend?
  • What side effects are common with these treatments?
  • There are other treatment options available?
  • How likely is that the treatment will work?
  • They are there, and that the food or the limitations on the activity?
  • Do you have brochures or other printed material I can have? What sites do you recommend?

Do not hesitate to ask other questions.

What to expect from your doctor

Your healthcare provider is likely to ask questions such as:

  • When he noticed the symptoms?
  • Have been continuous or occasional?
  • What, if anything, seems to improve your symptoms?
  • What, if anything, appears to worsen them?
Symptoms and treatment of Sickle cell anemia