Understanding Pediatric Sickle Cell Disease : Causes, Symptoms, and Treatment

One in every five hundred African American infants born in the United States is affected by sickle cell disease.⁽¹⁾ Sickle cell disease and its variants are genetic disorders that result from the presence of a mutated form of hemoglobin, named hemoglobin S (HbS).^{(2, 3)} Sickle cell disease (SCD) is inherited, and individuals who make hemoglobin S in their red blood cells (RBCs) have inherited the sickle cell gene from one or both parents. Pediatric sickle cell disease is observed in children who inherit the sickle cell gene from their parents. Children with pediatric sickle cell disease start showing symptoms during the first year of their lives.

• Pediatric sickle cell disease is an inherited blood disorder that children are born with. This is passed down through their parental genes.
• Children who have the disease, usually start showing symptoms during the first year of their lives.
• In sickle cell disease, the red blood cells have an abnormal C shape that makes them get stuck in small blood vessels, which in turn, block blood flow.
• This blockage of blood flow leads to intense pain and infection. Major organs of children can also be damaged with pediatric sickle cell disease.
• Long-term anemia, acute chest syndrome, pain, and stroke are some of the possible complications of pediatric sickle cell disease.
• As a part of a group of screening tests, newborns are screened for sickle cell disease.
• Blood transfusion, pain medications, and stem cell transplants, are some of the treatment methods for this condition.

Children affected by this disease produce an abnormal type of hemoglobin, that is hemoglobin S (HbS), instead of the normal hemoglobin A. The tissues and organs of children with pediatric sickle cell disease do not receive adequate oxygen.

Healthy red blood cells (RBCs) with normal hemoglobin are round and can easily move through blood vessels. However, in the case of pediatric sickle cell disease, these RBCs are shaped like like a sickle (a farm tool) or a crescent. These sickle cells are sticky, clump together, and cannot move easily through the blood vessels. They get stuck in small blood vessels and block the flow of blood, which can cause pain and damage major organs in children. Most children with sickle cell disease start showing symptoms during the first year of their life, usually around five months.

Symptoms of pediatric sickle cell disease can vary from one child to another. They may have mild to severe symptoms. Some of the important symptoms include:

1. Anemia

   The most common symptom of pediatric sickle cell disease is anemia. Having fewer red blood cells (RBCs) results in anemia, making the affected children appear pale and tired.

2. Pain Crisis or Sickle Crisis

   Children with sickle cell disease will also experience sudden pain anywhere. When the sickle cells move through small blood vessels get stuck and result in blockage of blood flow, it can cause sudden pain anywhere, mostly in the arms, chest, and legs. Young children and infants might experience pain in their fingers and have swollen toes.

3. Yellowing of the Skin, Eyes, and Mouth (Jaundice)

   One of the common symptoms of sickle cell disease in children is yellowing of their skin, eyes, and mouth (jaundice). Sickle cells cannot live as long as normal red blood cells. They die faster than the liver could filter them out. When these sickle cells die, they release a substance known as bilirubin, which is yellow.

4. Acute Chest Syndrome

   Acute chest syndrome (ACS) is another symptom of sickle cell disease, which appears when sickle cells stick together and block oxygen flow in the tiny vessels in the lungs. It is a life-threatening complication of the disease with its peak incidence in early childhood.⁽⁴⁾ Acute chest syndrome occurs suddenly when the body is under stress from infection. The condition looks like pneumonia and can include fever, fluid loss (dehydration), pain, and a violent cough too.

5. Splenic Sequestration (Pooling)

   Splenic sequestration or pooling occurs in 30% of sickle cell disease patients below 6 years.⁽⁵⁾ The sickle cells getting stuck in the spleen, cause it to enlarge, leading to extreme pain and hemoglobin drop in the patient. This would require immediate treatment.

Long-term anemia, stroke, infection, acute chest syndrome, splenic sequestration, and pain crisis are some of the potential complications of pediatric sickle cell disease. The condition can also affect major organs, causing bone damage, gallstones, kidney damage, eye damage, leg ulcers, frequent infections, and multiple organ failure.

Sickle cell disease is a congenital condition resulting from the inheritance of two sickle cell genes—one from each parent. Children who inherit just one sickle cell gene don’t manifest the disease but carry the trait, making them carriers. When both parents are carriers, their child has an elevated risk of developing pediatric sickle cell disease. For such carrier parents, each subsequent child has a 25% chance of being affected by the disease.

Early diagnosis is crucial for providing appropriate treatment and effective management of the condition, as well as preventing its devastating complications. Some diagnostic procedures for pediatric sickle cell disease include:

1. Complete Medical History and Physical Examination

   A complete medical history, physical examination, and family history will be included in the initial stage of diagnosis for pediatric sickle cell disease.

2. Newborn Screening and Blood Test (Hemoglobin Electrophoresis)

   Sickle cell disease is found as a part of newborn screening. If the screening test shows positive results, a blood test known as hemoglobin electrophoresis would be done. This will show if the child is a carrier of sickle cell. It can also show if they have any disease linked to the sickle cell gene. Based on these results, further blood tests might also be done.

The treatment plan depends on the child’s symptoms, age, and overall health. It also depends on how severe the condition is. Common treatments for pediatric sickle cell disease include:

1. Pain Medications and Folic Acid

   Pain medicines are given to children with sickle cell disease to reduce pain crises, while Folic acid helps in preventing severe anemia.

2. Blood Transfusions

   Blood transfusions are used for treating anemia, acute chest syndrome, chronic pain, splenic sequestration, and to prevent stroke.

3. Hydroxyurea

   Hydroxyurea can reduce the number of sickle cells, thus decreasing painful episodes and complications of the condition.

4. Stem Cell Transplant

   Stem cell (bone marrow) transplants can cure children with sickle cell disease effectively. This treatment would require a donor with suitable bone marrow. Stem cell transplants are done at specific medical centers. Studies of this treatment method are ongoing.

5. Gene Therapy

   Gene therapy is also another field that is being explored as a means of treatment for pediatric sickle cell anemia shortly. To speed up the search for cures for sickle cell disease, a collaborative research effort led by the U.S. National Heart, Lung, and Blood Institute was created in 2018.⁽⁶⁾

Sickle cell disease in children can be a severe, chronic, and life-threatening disease. Managing sickle cell disease should involve parents and specialists working together to prevent complications. While complete prevention is not possible, adopting a wholesome lifestyle can help reduce complications. Suggestions include:

• Maintaining a healthy diet.
• Staying hydrated and getting sufficient sleep.
• Avoid exposure to sick individuals.
• They should avoid cold water, swimming pool, and cold weather.
• Administering Penicillin to all children with sickle cell under 5 years to prevent infections.
• Undergoing annual eye check-ups for retinopathy screening.

Parents or caregivers of children with sickle cell disease must work with a specialized pediatrician and should contact their doctor if they notice

• Worsening symptoms
• Increased pain and illness.
• Complications from treatment.
• Delayed baby development.

NOTE: Children having intense pain or trouble breathing should be immediately taken to the emergency room.

Pediatric sickle cell anemia is a cause for concern among parents with affected children. However, with early diagnosis and appropriate medical attention, children can live healthier lives with reduced complications.

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