Sickle cell disease is a group of inherited disorders that affect hemoglobin (the protein that carries oxygen) through the body. Sickle cell anemia is the most common and most serious variant of sickle cell disease. It causes crescent or sickle shape of red blood cells. A sickled red blood cell is more fragile than a normal cell.
The sickle cells also tend to be rigid and sticky when compared to normal red blood cells. The abnormal cells may block tiny blood vessels and reduce or prevent blood flow to different parts of the body. This may often lead to episodes of pain and organ failures.
Read this post to know more about the causes, symptoms, signs, complications, diagnosis, treatment, and prevention of sickle cell anemia in children.
Causes Of Sickle Cell Anemia In Children
Sickle cell gene is produced by a single point mutation in the beta globin gene of hemoglobin leading to formation of hemoglobin S in the place of normal hemoglobin A. We usually have two copies of this gene one inherited from each of our parents. Inheritance of this mutated gene from both parents leads to sickle cell disease. However, if a person inherits a normal gene from one parent and an abnormal hemoglobin S gene from the other parent, they will have sickle cell trait. Individuals with sickle cell trait are usually asymptomatic but may pass the mutated gene to their children.
If both the parents have sickle cell trait there is a 25% chance of any of their offspring having sickle cell disease, 50% chance of any offspring having the trait and 25% chance of any offspring having normal hemoglobin (neither disease nor trait).
Those with sickle cell disease suffer from various consequences of having an abnormal hemoglobin. Abnormal hemoglobin S becomes stiff and sticks together when deoxygenated i.e., after delivering oxygen to the tissues, resulting in the distorted, sickle shape of red blood cells. Misshapen red blood cells can be more rigid and fragile than normal cells (1). Normal red blood cells are biconcave disc shaped and flexible so that they can pass through even small and tortuous blood vessels easily.
Signs And Symptoms Of Sickle Cell Anemia In Children
The signs and symptoms of sickle cell anemia may vary in each child. However, the onset of the disease is usually seen around five months of life.
You may notice the following signs and symptoms in a child with sickle cell anemia (2).
- Anemia can be seen in affected children since sickled cells die early. A normal red blood cell lives for approximately 120 days, whereas a sickle cell dies within 10 to 20 days before it is replaced by a new cell. The gap in death and replacement of red blood cells could cause anemia. Lack of red blood cells could reduce the supply of oxygen and result in fatigue. At times the degree of anemia may be so severe as to become life-threatening.
Besides the reason stated above anemia can occur due to parvovirus B19 infection. This virus causes a mild viral infection called fifth disease in normal children but can infect the bone marrow and stop the production of red blood cells for sometime which can be dangerous for sickle cell anemia patients.
Again sickle shaped red blood cells tend to get trapped in the spleen making it grow in size. A larger spleen can trap even more red blood cells and produce severe abdominal pain as well as severe anemia in the patients known as splenic sequestration crisis.
- Acute chest syndrome occurs due to sickling of red blood cells in the lungs, depriving lungs of oxygen and damaging them. It is an emergency characterized by chest pain, breathing difficulty, and fever and the child should immediately be taken to a doctor if such symptoms develop.
- Acute pain crises are episodes of pain due to sickle cells blocking tiny blood vessels. It is described as sharp, intense, throbbing or stabbing pain. Pain is usually felt in the abdomen, chest, joints, and bones but can happen anywhere in the body. It may be precipitated by high altitudes, dehydration, illness, temperature changes, or stress but often the cause is not known. This may last for some days to weeks, and the frequency may vary in each child.
Chronic pain is common and is different from acute pain crisis.
- Frequent infections may occur due to damage to the spleen caused by sickle cells. There is an increased risk of infections including chlamydia, hemophilus influenzae type B, streptococcus pneumoniae, salmonella and staphylococcus.
- Vision problems may indicate retinal damage due to blockage of blood vessels in the eye.
- Growth and pubertal delay may occur due to a shortage of oxygen and nutrients.
- Stroke is a known complication of sickle cell anemia and may be silent or symptomatic. Stroke usually presents as a sudden weakness of movement (palsy) or seizure but may sometimes be silent and manifest only as learning difficulty in children. Sickle cell anemia is always kept as a possibility in any case of pediatric stroke.
- Leg ulcers recurrent or non healing may be seen in these children but usually only after 10 years of age.
- Priapism is prolonged painful erection of the penis and requires urgent medical care if it lasts more than 4 hours to prevent impotence.
In infancy sickle cell anemia could manifest as fussiness, jaundice and painful swelling of hands and feet especially fingers.
When To See A Doctor?
Most children may have been diagnosed with sickle cell anemia during infancy. You may seek immediate medical care if you notice any of the following issues (3).
- Episodes of severe pain
- Hand and feet edema (swelling)
- Tender and swollen abdomen
- Pale skin
- Stroke signs and symptoms such as paralysis, speaking problems, confusion, and walking difficulties
- Sudden vision loss
- Severe headache
- Numbness without a known cause
Early diagnosis and treatment may reduce the risk of complications such as severe infections, vision loss, and stroke.
Complications Of Sickle Cell Anemia In Children
Sickle cell anemia may cause the following complications due to sickle cells blocking the blood flow to major organs and tissues (4)
- Stroke may develop if the blood supply of the brain is affected.
- Acute chest syndrome could be caused by severe infection or blockage of lung vessels by sickle cells.
- Organ (renal, cardiac, hepatic) damages may occur due to a lack of oxygen-rich blood.
- Blindness may occur due to the blockage of retinal blood vessels.
- Leg ulcers, which are open sores on the leg, could develop due to a lack of blood supply.
- Gallstones may occur due to higher levels of bilirubin from red blood cell breakdown.
- Pulmonary hypertension may occur due to increased blood pressure in the lungs.
- Joint problems due to sickling in hip joints and less commonly in shoulders, knees and ankles leading to avascular necrosis. Overtime may need pain medicines, surgery and even replacement.
Diagnosis Of Sickle Cell Anemia In Children
Blood tests (like Hb electrophoresis) help identify the defective hemoglobin that causes sickle cell anemia. Additional tests, such as imaging tests, are done to evaluate the possible complications.
In many countries, sickle cell anemia screening is done as a part of newborn screening program (blood is collected on filter paper usually after 48 hours of birth as soon as possible to screen for presence of a number of inborn disorders by tests, which may not be self evident at birth).
If the blood tests positive for sickle cell anemia, your doctor may refer your child and you for genetic counseling (5).
Amniotic fluid sampling may help to diagnose sickle cell anemia before birth. This screening test is performed if both parents have sickle cell trait.
Treatment Of Sickle Cell Anemia In Children
Treatment of sickle cell anemia is aimed at reducing symptoms and preventing pain and other complications. Medications and blood transfusions are often required for sickle cell anemia management in children. Some teens and children can benefit from stem cell therapy that may cure the disease.
The treatment prescribed by the child’s doctor may include the following (6).
- Hydrea, Siklos, or Droxia are different brands of hydroxyurea medication that help reduce pain episodes, hospitalizations, and blood transfusions. It is commonly prescribed but can sometimes cause marrow suppression, though usually, it is temporary. It should always be taken as per the treating doctor’s advice.
- Endari is a brand of L-glutamate oral powder to reduce pain crises.
- Adakveo (crizanlizumab) is a drug administered intravenously to reduce pain crises.
- Narcotic pain-relieving medications are also prescribed for severe pain crises.
- Oxbryta (voxelotor) is an oral drug to reduce sickling in sickle cell anemia. It has been approved by the USFDA in 2019.
These drugs may cause side effects, such as fever, nausea, vomiting, and joint pain. You may follow the prescription to reduce adverse effects. The medications could vary depending on the child’s age, health, and severity of sickle cell anemia. If the child has any complications, such as infections, additional medicines may be prescribed.
Surgical and other procedures to treat sickle cell anemia may include the following (6).
- Red blood cell transfusions may help reduce symptoms and complications. Immune response to donor blood and excess iron load may happen after transfusions. Doctors may prescribe medications to reduce iron overload for children who undergo regular transfusions.
- Bone marrow transplant, also known as stem cell transplant, is recommended for severe sickle cell anemia c Children may require treatment to prevent transplant rejection and extended hospital stay during the procedure.
Gene therapy for sickle cell anemia is under active research and soon a newer modality might be available to cure sickle cell disease.
Prevention Of Sickle Cell Anemia In Children
There is no way to prevent the disease since it is a genetic disorder (7). If both parents carry sickle cell trait, genetic counseling before conception may help understand the risk of sickle cell anemia.
Children with sickle cell anemia should be on regular follow up as per their doctors advice.
- Penicillin is given to babies between the ages of two months and five years to prevent life-threatening infectious diseases such as pneumococcal pneumonia
- Older children may also require penicillin treatment if the spleen is removed
- Childhood vaccinations should be taken to avoid infections which include the H. influenza B vaccine, annual flu shot, pneumococcal (both PPSV 23 and PCV 13), and meningococcal vaccines .
Preventive medications, symptom relievers, and pain relievers are also required. You may teach your child other ways to minimize the risk of infections, such as washing hands, wearing masks, and avoiding sharing personal items.
Home Care Measures For Sickle Cell Anemia
The following homecare steps may help reduce the frequency of infections and episodes of severe symptoms in children with sickle cell anemia (9).
- A healthy diet containing folic acid (vitamin B9) and other vitamins may help enhance red blood cell
- Take medications on time.
- Stay hydrated since dehydration may lead to a sickle cell crisis.
- Avoid extreme heat or cold climates.
- Do moderate regular exercise as per doctor’s recommendations.
- Use over-the-counter medications with caution.
- Avoid exposure to cigarette smoke and other pollutants.
- Learn a few easy-to-acquire skills that will prove to be useful in the long run. Learn to recognize when an acute crisis is just starting — if your child complains of pain, ensure they drink plenty of fluids and give a pain reliever like paracetamol (take your doctor’s guidance beforehand regarding what to do in such a case).
Remember which scenarios need urgent visit to a doctor (eg: high grade fever, stroke-like symptoms, acute pain crisis, acute chest syndrome, severe anemia, priapism)
Know how to feel an enlarged spleen in your child. Do it at regular intervals and visit the doctor if it feels larger than usual.
Parents of the child may often experience emotional turmoil and feel guilty for passing on defective genes. However, it is an inherited factor, and you cannot modify genes. It is best to focus on optimal management, which can benefit your child in the long run. Seek support from family members, friends, counselors, and organizations associated with sickle cell anemia. You may also attend genetic counseling before planning to become pregnant.
2. Sickle Cell Disease in Children; University of Rochester Medical Center (URMC)
3. Sickle cell anemia; St. Clair Hospital
4. Pediatric Sickle Cell Disease; Children’s National Hospital
5. Sickle Cell Disease; MSD Manual
6. When Your Child Has Sickle Cell Anemia; Fairview
7. Sickle Cell Disease; American Academy of Family Physicians
8. Opportunities to Improve Outcomes in Sickle Cell Disease; American Academy of Family Physicians
9. Sickle Cell Disease; Monroe Carell Jr. Children’s Hospital at Vanderbilt
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