A blood and bone marrow transplant is currently the only cure for some patients who have sickle cell disease. After early diagnosis, the goal is health maintenance to prevent complications and medicines and treatments to manage complications, including chronic pain.
Health maintenance to prevent complications
Babies with sickle cell disease may see a hematologist, a doctor with special training in blood diseases such as sickle cell disease. For infants, the first sickle cell disease visit should take place before 8 weeks of age.
If someone was born in a country that does not perform newborn screening, he or she might be diagnosed with sickle cell disease later in childhood. These people should also be referred as soon as possible for special care.
All people who have sickle cell disease should see their health care providers every three to 12 months, depending on the person’s age. Your doctor or medical team can help to prevent problems by taking certain steps:
- Educating families about the disease and what to watch out for
- Examining the person
- Giving medicines and immunizations
- Performing tests
In sickle cell disease, the spleen does not work properly or at all. This problem makes people who have sickle cell disease more likely to get severe infections.
In children who have sickle cell disease, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Infants need to take liquid penicillin. Older children can take tablets.
Many doctors will stop prescribing penicillin after a child has reached the age of 5. Some prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS or hemoglobin Sβ0 thalassemia, since people who have sickle cell disease are still at risk. All people who have had surgical removal of the spleen, called a splenectomy, or a past infection with pneumococcus should keep taking penicillin throughout life.
People who have sickle cell disease should receive all recommended childhood vaccines. They should also receive additional vaccines to prevent other infections.
- Influenza. All people who have sickle cell disease should receive an influenza shot every year at the start of flu season. This vaccination should begin at 6 months of age. Only the inactivated vaccine, which comes as a shot, should be used in people who have sickle cell disease.
- Meningococcus. A child who has sickle cell disease should receive a meningococcal vaccine at 2, 4, 6, and 12–15 months of age. The child should receive a booster vaccine three years after this series of shots, then every five years after that.
- Pneumococcus. Even though all children routinely receive the vaccine against pneumococcus (PCV13), your child’s doctor may recommend a second kind of vaccine against pneumococcus (PPSV23). This second vaccine is given after 24 months of age and again five years later. Adults who have sickle cell disease who have not received any pneumococcal vaccine should get a dose of the PCV13 vaccine. They should later receive the PPSV23 if they have not already received it or if it has been more than five years since they did. A person should follow these guidelines even if he or she is still taking penicillin.
Screening tests and evaluations
Height, weight, blood pressure, and oxygen saturation
Doctors will monitor height and weight to be sure that a child is growing properly and that a person who has sickle cell disease is maintaining a healthy weight.
Doctors will also track a person’s blood pressure. When a person who has sickle cell disease has high blood pressure, it needs to be treated promptly, because it can increase the risk of stroke.
Oxygen saturation testing provides information about how much oxygen the blood is carrying.
Blood and urine testing
People who have sickle cell disease need to have frequent lab tests.
- Blood tests can tell your doctor whether you have another health problem, such as anemia or organ damage, so that it can be treated early.
- Urine testing can help to detect early kidney problems or infections.
Transcranial Doppler (TCD) ultrasound screening
Children who have hemoglobin SS or hemoglobin Sβ0 thalassemia and are between the ages of 2 and 16 should have TCD testing once a year.
This study can find out whether a child is at higher risk for stroke. When the test results are abnormal, regular blood transfusions can decrease the chances of having a stroke.
The child is awake during the TCD exam. The test does not hurt at all. The TCD machine uses sound waves to measure blood flow, like the ultrasound machine used to examine pregnant women.
An eye doctor, or ophthalmologist, should examine a patient’s eyes every 1 to 2 years from the age of 10 on.
These exams can detect sickle cell disease-related problems of the eye. Regular exams can help doctors find and treat problems early to prevent loss of vision. A patient should see his or her doctor right away for any sudden change in vision.
Doctors have different approaches to screening for pulmonary hypertension. This is because studies have not given clear information as to when and how a patient should receive the screening. People who have sickle cell disease and their caretakers should discuss with their doctors whether screening makes sense for them.
Patients who have sickle cell disease can develop cognitive problems that may be hard to notice early in life. Sometimes these problems are caused by silent strokes that can only be seen with magnetic resonance imaging (MRI) of the brain.
People who have sickle cell disease should tell their doctors or nurses if they have cognitive problems, such as difficulties learning in school, making decisions, or organizing their thoughts. Patients can be referred for cognitive testing. This testing can identify areas in which a person could use extra help.
Children who have sickle cell disease and who have cognitive problems may qualify for an Individualized Education Program, or IEP. An IEP is a plan that helps students reach their educational goals. Adults may be able to enroll in vocational rehabilitation programs that can help them with job training.
Education and guidance
Doctors and other providers will talk with people who have sickle cell disease and their caretakers about complications and also review information at every visit.
Because there are many things to discuss, new topics are often introduced as a child or adult reaches an age when that subject is important to know about.
Doctors and nurses know that there is a lot of information to learn, and they do not expect people to know everything after one discussion. People who have sickle cell disease and their families should not be afraid to ask questions.
Topics that are usually covered include:
- A plan for what to do and where to get care if a patient has a fever, pain, or other signs of sickle cell disease complications that need immediate attention
- Hours when medical staff are available and contact information to use when people who have sickle cell disease or caretakers have questions
- How sickle cell disease is inherited and the risk of having a child with sickle cell disease
- How to palpate, or feel, a child’s spleen. Because of the risk of splenic sequestration crisis, caretakers should learn how to palpate a child’s spleen. They should try to feel for the spleen daily and more frequently when the child is ill. If they feel that the spleen is bigger than usual, they should call the care provider.
- How to recognize and manage pain
- The importance of regular medical visits, screening tests, and evaluations
When children who have sickle cell disease become adolescents or young adults, they often need to transition from a pediatric care team to an adult care team. This period has been shown to be associated with increased hospital admissions and medical problems. There seem to be many reasons for this.
Some of the increased risk is directly related to the disease. As people who have sickle cell disease get older, they often develop more organ damage and more disabilities.
The shift in care usually occurs at the same time that adolescents are undergoing many changes in their emotional, social, and academic lives. The transition to more independent self-management may be difficult, and following treatment plans may become less likely.
Compared with pediatrics, there are often fewer adult sickle cell disease programs available in a given region. This makes it more difficult for a person who has sickle cell disease to find appropriate doctors, particularly doctors with whom they feel comfortable.
To improve use of regular medical care by people who have sickle cell disease and to reduce age-related complications, many sickle cell disease teams have developed special programs that the make transition easier. Such programs should involve the pediatric and adult care teams. The programs should also start early and continue over several years.
Managing some complications of sickle cell disease
Each person who has sickle cell disease should have a home treatment regimen that is best suited to their needs. The providers on the team usually help a patient develop a written, tailored care plan. If possible, the person who has sickle cell disease should carry this plan with them when they go to the emergency room.
- When an acute crisis is just starting, most doctors will advise the patient to drink lots of fluids and to take a non-steroidal anti-inflammatory (NSAID) pain medicine, such as ibuprofen. When a person has kidney problems, acetaminophen is often preferred.
- If pain persists, many patients find that they need a stronger medicine.
- Combining additional interventions, such as massage, relaxation methods, or a heating pad, may also help.
- If a person who has sickle cell disease cannot control the pain at home, he or she should go to a sickle cell disease day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids.
- Some patients may be able to return home once their pain is under better control. In this case, the doctor may prescribe additional pain medicines for a short course of therapy.
- Patients often need to be admitted to the hospital to fully control an acute pain crisis.
- When taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes.
Some patients may have fewer visits to the hospital or hospitalizations due to severe pain and may have shorter hospital stays for pain crises if they are taking L-glutamine oral powder (Endari) compared with patients who are not taking this medicine. More research is needed to understand how effective L-glutamine oral powder is as a treatment and which patients may benefit from using it.
Sometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of the hip. In this case, doctors try to treat the complication causing the pain.
While chronic pain is common in adults who have sickle cell disease, the cause is often poorly understood. Taking pain medicines daily may help to decrease the pain. Some examples of these medicines include:
- NSAID drugs, such as ibuprofen
- Strong pain medicines, such as opioids. These should be taken with caution and only under your doctor’s direction because of the risk of addiction or overdose.
Other approaches, such as massage, heat, or acupuncture, may be helpful in some cases. Chronic pain often comes with feelings of depression and anxiety. Supportive counseling and, sometimes, antidepressant medicines may help.
Patients should see their doctors or go to a hospital right away if they develop anemia symptoms from a splenic sequestration crisis or an aplastic crisis. These conditions can be life-threatening, and the patient will need careful monitoring and treatment in the hospital. A patient also usually needs a blood transfusion. People who have sickle cell disease and symptoms of severe anemia from other causes should also see a doctor right away.
Some patients may have fewer hospital visits due to sickle cell crises, including splenic sequestration, if they are taking L-glutamine oral powder, compared with patients who are not taking this medicine. More research is needed to understand how effective L-glutamine oral powder is as a treatment and which patients may benefit from using it.
Return to Signs, Symptoms, and Complications to review possible complications from sickle cell disease.
Fever is a medical emergency in sickle cell disease. All caretakers of infants and children who have sickle cell disease should take their child to their doctor or go to a hospital right away when their child has a fever. Adults who have sickle cell disease should also seek care for fever or other signs of infection.
All children and adults who have sickle cell disease and a fever of more than 38.5°C or 101.3°F must be seen by a doctor and treated with antibiotics right away. Some people will need to be hospitalized, while others may receive care and follow-up as outpatients.
Acute chest syndrome
People who have sickle cell disease and symptoms of acute chest syndrome should see their doctor or go to a hospital right away. They will need to be admitted to the hospital, where they should receive antibiotics and close monitoring. They may need oxygen therapy and a blood transfusion. When taken daily, the medicine hydroxyurea has been found to decrease the number and severity of acute chest events.
Some patients may have fewer hospital visits due to sickle cell crises, including acute chest syndrome, if they are taking L-glutamine oral powder, compared with patients who are not taking this medicine. More research is needed to understand how effective L-glutamine oral powder is as a treatment and which patients may benefit from using it.
People who have sickle cell disease and have symptoms of stroke should be brought to the hospital right away by an ambulance. If a patient is having symptoms of stroke, call 9-1-1.
Symptoms of stroke may include:
- Loss of balance
- Severe headache
- Trouble speaking, walking, or understanding
- Weakness of an arm or leg on one side of the body
If imaging studies reveal that the patient has had an acute stroke, he or she may need an exchange transfusion. This procedure involves slowly removing an amount of the patient’s blood and replacing it with blood from a donor who does not have sickle cell disease or sickle cell trait. Afterward, the patient may need to receive monthly transfusions or other treatments to help to prevent another stroke.
Silent stroke and cognitive problems
Children and adults who have sickle cell disease and cognitive problems may be able to get useful help based upon the results of their testing. For instance, children may qualify for an IEP. Adults may be able to enroll in vocational, or job, training programs.
Sometimes, a patient may be able to relieve priapism by:
- Doing light exercise
- Emptying the bladder by urinating
- Increasing fluid intake
- Taking medicine
If a patient has priapism that lasts for four hours or more, he should go to the hospital to see a hematologist and urologist.
Some patients may have fewer hospital visits due to sickle cell crises, including priapism, if they are taking L-glutamine oral powder, compared with patients who are not taking this medicine. More research is needed to understand how effective L-glutamine oral powder is as a treatment and which patients may benefit from using it.
Return to Signs, Symptoms, and Complications to review possible complications from sickle cell disease.
Pregnant women who have sickle cell disease are at greater risk for problems. They should always see an obstetrician, or OB, who has experience with patients who have sickle cell disease and with high-risk pregnancies and deliveries. The obstetrician should work with a hematologist or primary medical doctor who is well informed about sickle cell disease and its complications.
Pregnant women who have sickle cell disease need more frequent medical visits so that their doctors can follow them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for the baby.
A pregnant woman who has sickle cell disease may need to have one or more blood transfusions during her pregnancy to treat complications, such as worsening anemia or an increased number of pain or acute chest syndrome events.
Pregnant women should not use hydroxyurea.
Hydroxyurea is an oral medicine that has been shown to reduce or prevent several sickle cell disease complications. This medicine was studied in patients who have sickle cell disease, because it was known to increase the amount of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some protection against the effects of hemoglobin S.
Hydroxyurea was later found to have several other benefits for people who have sickle cell disease, such as decreasing inflammation.
- Use in adults. Many studies of adults with hemoglobin SS or hemoglobin Sβ thalassemia showed that hydroxyurea reduced the number of episodes of pain crises and acute chest syndrome. It also improved anemia and decreased the need for transfusions and hospital admissions.
- Use in children. Studies in children with severe hemoglobin SS or Sβ thalassemia showed that hydroxyurea reduced the number of vaso-occlusive crises and hospitalizations. A study of children between the ages of 9 and 18 months with hemoglobin SS or Sβ thalassemia also showed that hydroxyurea decreased the number of pain episodes and dactylitis.
Since hydroxyurea can decrease several complications of sickle cell disease, most experts recommend that children and adults with hemoglobin SS or Sβ0 thalassemia who have frequent painful episodes, recurrent chest crises, or severe anemia take hydroxyurea daily.
Some experts offer hydroxyurea to all infants over 9 months of age and young children who have hemoglobin SS or Sβ0 thalassemia, even if they do not have severe clinical problems, to prevent or reduce the chance of complications. There is no information about how safe or effective hydroxyurea is in children under 9 months of age.
Some experts will prescribe hydroxyurea to people with other types of sickle cell disease who have severe, recurrent pain. There is little information available about how effective hydroxyurea is for these types of sickle cell disease.
In all situations, people who have sickle cell disease should discuss with their doctors whether hydroxyurea is an appropriate medicine for them.
Pregnant women should not use hydroxyurea.
How is hydroxyurea taken?
To work properly, hydroxyurea should be taken by mouth daily at the prescribed dose. When a patient does not take it regularly, it will not work as well or it will not work at all.
A person who has sickle cell disease and who is taking hydroxyurea needs careful monitoring. This is particularly true in the early weeks of taking the medicine. Monitoring includes regular blood testing and dose adjustments.
What are the risks of hydroxyurea?
Hydroxyurea can cause the blood’s white cell count or platelet count to drop. In rare cases, it can worsen anemia. These side effects usually go away quickly if a patient stops taking the medication. When the patient restarts it, the doctor usually prescribes a lower dose. Other short-term side effects are less common.
It is still unclear whether hydroxyurea can cause problems later in life in people who have sickle cell disease and take it for many years. Studies so far suggest that it does not put people at a higher risk of cancer and does not affect growth in children. But further studies are needed.
Red blood cell transfusions
Doctors may use acute and chronic red blood cell transfusions to treat and prevent certain sickle cell disease complications. The red blood cells in a transfusion have normal hemoglobin in them.
A blood transfusion helps to increase the number of red blood cells and provides normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. These cells live longer in the circulatory system. Red blood cell transfusions decrease the risk for blockages in the blood vessels and improve oxygen delivery to the tissues and organs.
Acute transfusion in sickle cell disease
Doctors use blood transfusions in sickle cell disease for complications that cause severe anemia. Doctors may also use transfusions when a patient has an acute stroke, in many cases of acute chest crises, and in multi-organ failure.
A patient who has sickle cell disease usually receives blood transfusions before surgery, to prevent complications.
Doctors recommend regular or ongoing blood transfusions for patients who have had an acute stroke, since transfusions decrease the chances of having another stroke.
Doctors also recommend chronic blood transfusions for children who have abnormal transcranial Doppler (TCD) ultrasound results, because transfusions can reduce the chance of having a first stroke.
Some doctors use this approach to treat complications that do not improve with hydroxyurea. They may also use transfusions in people who have too many side effects from hydroxyurea.
What are the risks of transfusion therapy?
Possible complications include:
- Alloimmunization, which can make it hard to find a matching unit of blood for a future transfusion
- Iron overload, particularly in people receiving chronic transfusions; this can severely impair heart and lung function
All blood banks and hospital personnel have adopted practices to reduce the risk of transfusion problems.
People who have sickle cell disease and who receive transfusions should be monitored for and immunized against hepatitis. They should also receive regular screenings for iron overload. If a patient has iron overload, the doctor will give chelation therapy, a medicine to reduce the amount of iron in the body and the problems that iron overload causes.
Blood and Bone Marrow Transplant
A blood and bone marrow transplant is currently the only cure for some patients who have sickle cell disease. Unfortunately, most patients who have sickle cell disease either are too old for a transplant or do not have a relative who is a good enough genetic match to be a donor. A well-matched donor is needed for a patient to have the best chance for a successful transplant.
Who receives blood and bone marrow transplants?
Most sickle cell disease transplants are currently performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. These transplants usually use a matched donor.
Because only about one in 10 children who has sickle cell disease has a matched donor without sickle cell disease in their families, the number of people who get transplants is low.
Blood and bone marrow transplants are is more risky in adults, and that is why most transplants are done in children.
Several medical centers are researching new sickle cell disease blood and bone marrow transplant techniques in children and adults who do not have a matched donor in the family or who are older than most recipients. Hopefully, more people who have sickle cell disease will be able to receive a transplant in the future using these new methods.
What are the risks?
Blood and bone marrow transplants are successful in about 85 percent of children when the donor is related and HLA matched. Even with this high success rate, transplants still have risks.
Complications can include severe infections, seizures, and other clinical problems. About 5 percent of people who have received such transplants have died. Sometimes transplanted cells attack the recipient’s organs. This is called graft-versus-host disease.
Medicines are given to prevent many of the complications, but they still can happen.