Sickle cell disease is a serious, inherited condition that affects the blood and various organs of the body.
It affects red blood cells, causing episodes of “death”, which produce episodes of pain and other symptoms.
Among episodes of death, people with sickle cell disease are usually fine. Long-term complications can occur. A good treatment, started early in life, can prevent complications.
Therefore, early diagnosis and specialized treatment for sickle cell disease is recommended. The sickle cell trait is not the same as sickle cell disease.
Sickle cell disease is a serious group of conditions that are inherited (genetic). It affects the red blood cells in the blood. Sickle-cell anemia is the name of a specific form of sickle cell disease in which there are two sickle cell genes.
What is sickle cell disease?
In sickle cell disease, red blood cells tend to lose their shape and become sickle shaped (like a crescent moon), instead of their normal disk shape. This can cause several problems, as described later.
Among episodes of illness, people with sickle cell disease feel good. Sickle cell disease is, therefore, a group of conditions that make red blood cells sickle-shaped.
The sickle cell trait is not the same as sickle cell disease or sickle cell anemia. The sickle cell trait means that you carry a single sickle cell gene, but it usually does not cause disease. Read more about the sickle cell trait.
The rest of this booklet will discuss sickle cell disease, which includes sickle cell anemia and the other less common disorders.
What is sickle cell anemia?
The anemia caused by sickle cell disease is not the same as the anemia caused by iron deficiency .
Almost everyone who has sickle cell anemia will also have anemia, a condition in which hemoglobin in the blood is low. Hemoglobin is found in red blood cells and is what helps transport oxygen throughout the body.
In general, this does not cause any other symptoms, but if an affected person is also infected with the parvovirus, commonly known as slapped cheek syndrome (a condition that primarily affects children and babies and causes a bright red rash on the cheeks) , I may need a blood transfusion
The same treatment is used for children if they experience swelling of the spleen, another cause of sudden onset anemia. Additional symptoms of this include: headaches, rapid heartbeat, dizziness and fainting due to lack of oxygen in the body.
Who gets sickle cell disease?
Anyone whose parents carry the defective gene that causes sickle cell anemia can be born with the disease. If both parents have the defective gene, there is a 25 percent chance that each child will be born with the disease.
The parents themselves often will not know that they are carriers of the disease, since they may not suffer it.
It is more common in people whose family origins are African, African-Caribbean or Asian or Mediterranean.
It is rare in people of northern European origin. On average, 1 in 2,400 babies born in England have sickle cell disease, but the rates are much higher in some urban areas, about 1 in 300 in some places.
Sickle cell disease is now one of the most common inherited (genetic) conditions in babies born in the United Kingdom.
The cause is inherited (genetic). It’s a change in the genes that tell the body how to make an important protein called hemoglobin. To get sickle cell disease, you must have two altered hemoglobin genes, one from each parent.
If you only have one of these genes, you will have a sickle cell trait, which is much milder.
The most common type of sickle cell disease occurs where you have two sickle cell genes (sickle cell anemia). The medical abbreviation for this is hemoglobin SS (or HbSS).
Other types of sickle cell disease involve a sickle cell gene plus another abnormal hemoglobin gene of a different type.
These include: SC hemoglobin; hemoglobin S / beta thalassemia; hemoglobin S / Lepore; hemoglobin SO arab.
Symptoms, diagnosis and treatment are similar for all sickle cell conditions.
How do sickle cell genes cause sickle cell disease?
Sickle cell genes affect the production of an important chemical called hemoglobin. Hemoglobin is found in red blood cells, which are part of the blood. Hemoglobin carries oxygen and gives the blood its red color.
The sickle cell genes cause the body to produce an abnormal hemoglobin called HbS. (Normal hemoglobin is called HbA.)
HbS behaves differently from HbA. Under certain conditions, HbS causes red blood cells to change shape: instead of the normal donut shape, they take on the shape of a sickle, like a crescent moon.
This is called sickle-shaped. The conditions that trigger the necrosis are cold, infection, lack of fluid in the body (dehydration), little oxygen and acid (the acid is produced in intense physical exercise).
What’s wrong with sickle cells?
Sickle cells that contain mostly HbS are harder and less flexible than normal red blood cells.
Therefore, they can get trapped in small blood vessels and block them. This can happen quite suddenly, causing several symptoms known as a sickle cell crisis (explained below).
Repeated blocks can also cause complications.
Sickle cells are more easily destroyed than normal red blood cells. This means that people with sickle cell disease tend to have few red blood cells and moderate and persistent anemia.
Moderate anemia is not usually a problem because HbS (the different hemoglobin) transports oxygen well and the body can compensate. However, you may have episodes of severe anemia for several reasons.
For example, if too much blood reaches the spleen, too many red blood cells break down at the same time or due to certain infections that stop the production of blood cells. Severe anemia can make you very sick.
The diagnosis is made by a blood test. The blood sample is analyzed to see what type of hemoglobin is present in the blood (using a test called hemoglobin electrophoresis or other methods).
This can diagnose most cases of sickle cell trait and sickle cell anemia (SCD). Sometimes, the result is unclear and additional tests, such as DNA (genetic) tests, are needed.
The diagnosis is made by a blood test. The blood sample is analyzed to see what type of hemoglobin is present in the blood.
Tests for pregnant women
If the result shows that you have a sickle cell gene, a test will also be offered to the baby’s father (if possible). The test results from both parents will help decide if your baby could be affected by sickle cell disease. The results will be explained to you.
If there is a possibility that the baby will inherit sickle cell disease, you will be offered counseling to see if you would like to have an additional test for the unborn baby (a prenatal test).
A prenatal test finds out if the unborn baby has sickle cell disease. If so, you will be offered counseling to discuss how this might affect the baby and if you want to continue the pregnancy.
Could sickle cell disease make my baby sick during pregnancy?
It does not affect the baby while it is in the uterus. Symptoms begin around 3 months of age, and treatment for sickle cell disease should begin at this age.
When is the best time to get tested?
If you are pregnant, the ideal time to get a blood test for sickle cell is before 10 weeks of pregnancy. This allows more time to evaluate your partner or your baby, if necessary.
You can ask your doctor for a test early in pregnancy if you have not yet been offered at that time. However, the tests can still be done at a later stage.
A prenatal test (the unborn baby) can be performed from 10 weeks of pregnancy onwards, depending on the type of test used. The usual tests offered are chorionic villus sampling (CVS) or amniocentesis.
Should I and my partner perform tests before starting a family?
Women or couples may wish to be tested for the sickle cell trait before starting a family, especially if family origins make the sickle cell trait more likely. You can ask your doctor for a sickle cell test.
The advantage of getting tested before you get pregnant is that you know whether or not there is a possibility that your baby will inherit sickle cell disease. This can be useful when making decisions about pregnancy.
For example, you may want to have a prenatal test during pregnancy if there is a risk of sickle cell disease for the baby.
The current recommendations are that women who undergo infertility tests and women who are receiving infertility treatment should undergo sickle cell trait tests.
Tests for newborn babies
All newborn babies are offered a bloodstain test at 5-8 days after birth. This proves a series of medical conditions that are considered important because early treatment makes a difference.
The test is done by taking a small spot of blood from the baby’s heel. The test now includes sickle cell disease. The results will be given about six weeks later.
If the baby has sickle cell trait, no action or treatment is needed. If the baby has sickle cell disease, the result will be explained. You will be given an appointment at the clinic to verify the diagnosis and begin treatment. Treatment should start when the baby is 3 months old.
Symptoms of sickle cell disease
The symptoms of sickle cell disease come and go. Usually, there are episodes of symptoms, but between episodes, you feel good.
The reason why the symptoms appear and disappear is because the red blood cells can behave normally most of the time, but if something causes many of them to become infected, the sickle cells cause symptoms.
If there are severe and sudden symptoms due to sickle cell disease, this is called a sickle cell crisis.
There is a lot of individual variation in symptoms, such as how many and how often you contract them. Some people with sickle cell disease have frequent symptoms, while others have very few and their sickle cell disease is hardly noticeable.
For most people, the symptoms are somewhere between these two extremes. Most people with sickle cell disease have some episodes of sickle cell crisis each year.
Symptoms usually begin after a few months of age. Before that age, the baby has a different hemoglobin, called fetal hemoglobin, which is not affected by the sickle cell gene.
The various symptoms that may occur if you have sickle cell disease include:
Episodes of pain
These are also called a pain crisis or a vaso-occlusive crisis. They occur when sickle cells block small blood vessels in the bones, causing pain. Pain usually occurs in bones and joints.
The pain may vary from mild to severe and may appear suddenly. A common symptom in infants and young children is that small bones in the fingers and toes swell and hurt; This is known as dactylitis .
Episodes of belly (abdominal) pain may occur if the sickle cells block the blood vessels in your abdomen.
Acute chest syndrome
This happens when there are blocked blood vessels in the lungs and sometimes it can happen with a lung infection.
Symptoms may include chest pain, high temperature (fever) and shortness of breath. Babies and young children may have looser symptoms and usually look bad, lack energy (lethargy), are restless, or have rapid breathing.
Acute chest syndrome is very serious and, if suspected, should receive urgent treatment at the hospital.
Acute chest syndrome may begin a few days after a painful sickle cell crisis. It is more common in women who are pregnant or who have recently had a baby.
These include pneumococcal bacteria, Haemophilus influenzae type b, and meningococcal bacteria and salmonella bacteria that can infect the bones. Symptoms of the infection include fever, malaise and pain in the affected part of the body.
Children with sickle cell disease are at high risk of serious or life-threatening infections. It is important to see a doctor quickly if you suspect an infection or feel sick.
Note: A fever can occur in a sickle cell crisis without an infection.
Sickle cell anemia
Anemia is a lack of hemoglobin in the blood. As mentioned earlier, people with sickle cell disease will usually have moderate anemia, which usually causes no problems.
However, sometimes, people with sickle cell disease can get severe anemia, which can be serious. It may appear very suddenly or more gradually. Urgent treatment may be needed.
The symptoms of severe anemia are:
- Feeling tired, fainting, shortness of breath, dizziness, nausea or rapid breathing, getting worse with physical activity.
- Babies and young children can be lethargic, without feeding too much or generally badly.
- A pale skin color (easier to see on the lips, tongue, nails or eyelids).
- With children, the spleen sometimes enlarges rapidly and causes sudden and severe anemia. The enlarged spleen is in the abdomen and can be felt. Parents can be shown how to feel their child’s spleen. If the spleen enlarges rapidly, it is a sign that urgent treatment is needed.
Sickle cell disease is a lifelong disease that needs long-term treatment. This treatment comes in a variety of forms, from the prevention of a sickle cell crisis to emergency care for sudden anemia.
If you have sickle cell disease, vaccines are vital to further prevent mild infections from speeding up and getting worse. The prevention of painful episodes can be achieved by avoiding possible triggers.
Drink plenty of water, wear clothes that are appropriate for the weather, and avoid sudden changes in temperature (for example, jumping into cold water). The medication can also be prescribed for continued pain.
Treatments for anemia are usually not necessary, but dietary supplements such as folic acid can help stimulate the production of red blood cells.
As a general rule, sickle cell disease can not be cured, so treatment and lifelong monitoring is needed. There are a number of different treatments that help prevent episodes of sickle cell disease or prevent related problems, such as infections.
Principles of treatment
It must be treated by a doctor or specialist team, with experience in the treatment of patients with sickle cell disease. If the specialist is too far from your home, part of your treatment may be with a local hospital or doctor, but local doctors should see your specialist.
Because the symptoms of sickle cell disease can start suddenly, you should be able to see a doctor and receive hospital treatment urgently, as needed.
You can be shown how to recognize the symptoms (in yourself or in your child), so that treatment can begin quickly. The treatment must be adapted to your individual needs. It is important to take preventive treatments against the infection and attend your check-ups.
Stem cell transplantation is the only available treatment that can cure sickle cell disease. It is only used for severe sickle cell disease. Its use is limited by the side effects of the procedure and the availability of adequate donors.
In general, a daily antibiotic (penicillin or erythromycin if you are allergic to penicillin) is recommended. This is especially important to protect against serious infections in children under 5 years old.
Vaccines : all the usual childhood vaccines are recommended, in addition, you must be vaccinated against meningitis and hepatitis B, in addition to the flu vaccine once a year. These vaccines are recommended for both adults with sickle cell disease and children with sickle cell disease.
Vitamin supplements : additional folic acid is usually recommended. This helps the body produce new red blood cells.
Travel : If you go to a country where there is malaria, take special care to take medicines to prevent malaria and avoid mosquito bites (people with sickle cell disease can get very sick from malaria).
Avoid smoking (which is bad for blood vessels) and excess alcohol. Also avoid the factors that can trigger necrosis.
Factors that can trigger sickle cell disease include:
- Lack of oxygen.
- Lack of fluid in the body (dehydration).
- Hard exercise
- High temperature (fever).
- Drink a lot of liquid.
- Exercise regularly (but avoid excessive exercise) and eat a healthy and balanced diet.
- Avoid cold and excessive effort.
- Treat infections and fevers quickly. In general, you will be given detailed advice on how to detect signs of fever or infection in you or your child, and how to get treatment quickly.
- Consult a doctor quickly if you feel unwell. Tell doctors and nurses that you have sickle cell disease.
Is there a cure for sickle cell disease?
Stem cell or bone marrow transplants are the only way to cure sickle cell disease. They are not used frequently because of the enormous risks involved in the procedures.
Extreme treatments such as these are only used when considering that the long-term benefits of a transplant outweigh the short-term risk of the procedure.
Sickle-cell anemia took the life of rapper Prodigy, 42 years old. He suffered complications from sickle cell anemia and did not respond to treatment.
Treatment of sickle cell episodes
The vast majority of people who have a sickle cell crisis do not need to go to the hospital to receive treatment. If the pain is mild and there is no fever, then it can be treated at home. The treatment usually involves:
Analgesics : depending on the amount of pain, you can take several types of analgesics. Mild analgesics are acetaminophen or ibuprofen. The moderates are codeine or dihydrocodeine.
A strong pain killer, such as morphine, may be needed for severe pain, which is usually given in the hospital.
Good hydration : this usually means drinking extra fluid, or sometimes a drip in one of your veins, which is necessary if you are sicker or can not drink.
Oxygen : This is usually given to you through a mask in the hospital. If you are not getting enough oxygen, most of your red blood cells may be sickle-shaped.
Antibiotics : These are used if you have an infection or when an infection is suspected. Normally you will already take a regular preventive antibiotic, as explained above. However, if an active infection is suspected, you will need a different antibiotic at a higher dose.
People with sickle cell disease should try to avoid any potential triggers of a sickle cell crisis as much as possible. For example, try to stay warm in cold weather, try to avoid dehydration, and take precautions if you are subjected to extreme exercise.
Blood transfusion is a useful treatment for some situations, such as acute chest syndrome or severe anemia. It can also be used to help prevent or treat certain complications.
The transfusion helps because it adds normal red blood cells to the blood. This corrects anemia and reduces the effects of the disease. There are possible side effects of blood transfusions, such as iron overload and problems with the immune system.
Therefore, transfusions are administered for a specific need, rather than routinely.
Treatment of acute thoracic syndrome
For acute chest syndrome, some of the treatments are the same as for sickle cell episodes: analgesics, hydration and antibiotics. In addition, you may need a blood and oxygen transfusion. A type of chest physiotherapy called incentive spirometry also helps.
Hydroxycarbamide (also called hydroxyurea), which is taken regularly, may help reduce the amount of symptoms, such as episodes of pain and acute chest syndrome.
Hydroxycarbamide can have serious side effects and needs monitoring with blood tests. It may be an option, but you and your doctor should consider the pros and cons of taking it.
The health of women
The choice of contraceptive method must be carefully considered. The intrauterine contraceptive device (sometimes called ‘the coil’) can cause particularly painful periods. It has been reported that the use of injectable contraceptives provides some protection against episodes of falciformation.
Planning a baby and pregnancy
Having sickle cell disease increases the risk of certain problems in pregnancy, such as high blood pressure or premature birth. Also, your symptoms of sickle cell disease may increase while you are pregnant.
Keep in mind that some medications such as hydroxycarbamide should be avoided if you are trying to conceive or become pregnant. You will also be advised to take a higher dose of folic acid (5mg) if you are pregnant or plan to become pregnant.
Therefore, when planning a pregnancy or being pregnant, consult your doctor from the beginning. Normally, you will have additional control of a specialist during your pregnancy.
You may want to have tests for your partner and the unborn baby to see if your baby could inherit sickle cell disease.
Anesthetics and operations
An operation or anesthesia is one of the things that can trigger sickle cell disease. Therefore, always inform your anesthesiologist, surgeon and other health care personnel that you have sickle cell disease, so that precautions can be taken to reduce the risk of the disease.
For example, sometimes a blood transfusion can be recommended before the operation or anesthesia.
What are the possible complications of sickle cell anemia and how are they prevented or treated?
Possible complications in children, growth, development and nutrition
As with any long-term illness, a child with sickle cell disease may grow more slowly than normal or be malnourished if the disease affects their appetite.
The growth, development and nutrition of your child should be monitored regularly and, if necessary, nutritional supplements can be administered.
Some children with sickle cell disease take longer than usual to control the bladder during the night, so they can wet the bed (nocturnal enuresis). Various treatments can help.
For adolescents, puberty may begin about 2-3 years later than the average.
The growth of bones can also be affected. For example, there may be changes in the joints of the hip or shoulder due to blood vessels blocked in that part of the bone.
If a joint is severely affected, surgery may be necessary.
Stroke or brain injury
This is a serious complication and affects approximately 1 in 10 children or adolescents with sickle cell disease. If sickle cells block blood vessels in the brain, this can cause a stroke.
There may be stroke symptoms, such as weakness of the face or limb, or difficulty speaking. For some children, there may be no obvious symptoms. However, many small strokes can cause subtle brain injury and hinder learning.
Strokes are treated with blood transfusions, which improves blood flow to the brain. In addition, research has found that regular blood transfusions help prevent strokes.
An ultrasound test called transcranial Doppler can be used to observe blood flow to the brain. This helps doctors decide if your child needs blood transfusions for prevention. Children of 3 years should be offered these scans.
The spleen is an organ located in the belly (abdomen), on the upper left side. Its function is to help the immune system. Sickle cells can block blood vessels in the spleen.
This can cause the spleen to swell suddenly with blood; In effect, it is like losing blood in the spleen. This is a cause of sudden and severe anemia, when your child suddenly becomes ill.
The medical term is splenic sequestration. You need urgent treatment with a blood transfusion.
If this problem occurs more than once, one option is surgery to remove the spleen. However, in adulthood, the problem usually resolves because the spleen becomes hard (fibrous) and can not swell.
Parvovirus is a common infection in childhood. It usually causes a mild illness with high temperature (fever), blushing of the cheeks and a rash.
With sickle cell disease, the virus can disrupt the bone marrow, which then stops producing blood for a while. This causes severe anemia and must be treated with blood transfusions until the bone marrow recovers.
Complications of blood transfusions
Transfusions can cause blood reactions. These are less likely if the blood is carefully adapted to your blood type. Infections such as hepatitis B and C can be transmitted by transfusion.
This is less likely in the United Kingdom and in countries where donor blood is tested for infections. The hepatitis B vaccine is also recommended.
Repeated blood transfusions can overload the body’s tissues with iron. You may need tests to measure the level of iron in the body.
If iron levels increase, you may need a treatment called chelation, which helps the body eliminate excess iron.
Possible complications in older adolescents and adults
Damage to various organs can develop gradually during adolescence and adulthood, due to small, repetitive blocks of small blood vessels. The amount of complications varies from person to person.
Lungs, heart and kidneys
Any of these organs can suffer some damage. Therefore, you will normally be offered regular checks of your heart, lungs and kidney function. Various treatments can help.
Regular eye controls are important. Sickle cell disease can cause changes in the blood vessels in the back of the eye (retina); This is called retinopathy . For retinopathy, laser treatment is administered to prevent further damage.
In addition, sickle cells can cause a sudden blockage of a blood vessel in the eye. If this happens, you will have a sudden reduction in your vision. This needs immediate treatment. Therefore, always consult a doctor quickly if your vision is suddenly reduced in some way.
Some teens and men with sickle cell disease may have unwanted erections of the penis, which can be painful. The medical name for this is priapism .
This can be quite brief, but if an erection does not diminish within an hour, then urgent treatment is needed. There are several treatments to relieve or prevent unwanted erections.
Stones in the gallbladder are more common in people with sickle cell disease and can cause episodes of pain in the upper right part of the abdomen. They may need a treatment that is usually an operation to remove the gallbladder.
Ulcers in the legs
Leg ulcers can occur with sickle cell disease, but they are not common. The treatment is with dressings and zinc supplements can help.
Complications of blood transfusions
These were previously explained for children, and also apply to adults.
What is the perspective?
Sickle cell disease is a serious disease that can shorten life. Without treatment, people with sickle cell disease can die in childhood because of problems such as infection.
Good treatment makes a big difference. Improvements in treatment mean that life expectancy has increased.
Even with a modern treatment, sickle cell disease can still cause serious or life-threatening problems. The dangerous problems are severe infection, acute chest syndrome and sudden severe anemia.
Awareness of symptoms and early treatment are important.
Some people get very few problems from their sickle cell disease, others have more symptoms or more complications.
The treatment of sickle cell anemia is a developing area of medicine. New treatments continue to be developed and information about the perspectives is very general. The specialist who knows your case can give you more precise information about the perspectives of your particular situation.