Sickle cell anemia is an inherited red blood cell (erythrocyte) disorder that causes crescent or sickle shape of red blood cells. A sickled red blood cell is more fragile than a normal cell and may not carry enough oxygen for the body tissues.
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 anemia is caused by a mutation in the HBB gene that causes changes in the amino acid in hemoglobin’s beta chain. Hemoglobin becomes stiff and sticks together, resulting in the distorted, sickle shape of red blood cells. Misshapen red blood cells can be more rigid and fragile than normal cells (1).
Sickle cell anemia develops only if both parents pass mutated genes to a child. If one parent is affected, children may have sickle cell traits, meaning they have inherited both sickle cells and normal cells. Children with sickle cell trait may not develop the disease, but they may pass the mutated gene to their children.
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.
- Pain crises are episodes of pain due to sickle cells blocking tiny blood vessels. Pain is usually felt in the abdomen, chest, joints, and bones. This may last for some days to weeks, and the frequency may vary in each child.
- The hands and feet could swell due to the blockage of blood flow.
- Frequent infections may occur due to damage to the spleen caused by sickle cells.
- Vision problems may indicate retinal damage due to blockage of blood vessels in the eye.
- Growth and puberty delay may occur due to a shortage of oxygen and nutrients.
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).
- Fever
- Episodes of severe pain
- Hand and feet edema (swelling)
- Tender and swollen abdomen
- Pale skin
- Jaundice
- 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 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.
Diagnosis Of Sickle Cell Anemia In Children
Blood tests help identify the defective hemoglobin that causes sickle cell anemia. Additional tests, such as imaging tests, are done to evaluate the possible complications. Stroke risk is often assessed in children with sickle cell anemia.
If the blood tests positive for sickle cell anemia, your doctor may refer your child and you for genetic counseling (5).
Stroke risk is often assessed in children with sickle cell anemia using an ultrasound device. Amniotic fluid sampling may help to diagnose sickle cell anemia before birth. This screening test is performed if both parents have sickle cell traits.
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.
- 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 anemia in sickle cell anemia.
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.
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.
Precautionary medications could be considered to prevent severe symptoms and complications. The following treatments are given to prevent infections in children with sickle cell anemia ((8).
- Penicillin is given to babies between the ages of two months and five years to prevent life-threatening infectious diseases such as
- Older children may also require penicillin treatment if the spleen is removed or if they had
- Childhood vaccinations should be taken to avoid infections.
- The annual flu shot, pneumococcal, and meningococcal vaccines are also given along with other recommended vaccines.
Preventive medications, symptom relievers, and pain relievers are also required in adult life. 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.
- Use over-the-counter medications with caution.
- Avoid exposure to cigarette smoke and other pollutants.
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.
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