Sickle cell disease in children

Sickle cell disease (SCD) is a genetic blood disorder that primarily affects red blood cells. It is inherited when a child inherits two abnormal hemoglobin genes, one from each parent. Sickle cell disease is a lifelong condition that can cause a range of health problems. Here are some key points to understand about sickle cell disease in children:

Types of SCD:

The most common types of SCD are sickle cell anemia (HbSS), sickle hemoglobin-C disease (HbSC), and sickle beta thalassemia (HbSβ-thalassemia). Each type has unique features and complications.

Genetic Inheritance:

Sickle cell disease is an autosomal recessive genetic disorder. This means that both parents must carry one copy of the abnormal gene for their child to inherit the disease.
If both parents are carriers (have one normal and one abnormal gene), there is a 25% chance with each pregnancy that the child will have SCD, a 50% chance that the child will be a carrier, and a 25% chance that the child will not inherit the abnormal gene.

Pathophysiology:

SCD causes red blood cells to become misshapen and “sickle” in response to low oxygen levels. These abnormally shaped cells can become stuck in blood vessels, leading to reduced blood flow and pain.
The repeated episodes of blockage and decreased oxygen delivery can damage tissues and organs over time.

Symptoms:

Common symptoms and complications of SCD in children may include:
- Pain Crisis: Intense episodes of pain, often called pain crises, can occur when sickle cells block blood flow.
- Anemia: Sickle cells are fragile and break apart more easily, leading to anemia, which can cause fatigue and paleness.
- Infections: Children with SCD are at increased risk of bacterial infections, particularly those caused by Streptococcus pneumoniae.
- Acute Chest Syndrome: A serious condition that can develop from lung infections or sickle cell-related lung problems.
- Splenic Sequestration: A sudden and painful enlargement of the spleen.
- Stroke: SCD can increase the risk of stroke in children.

Diagnosis:

SCD is usually diagnosed through newborn screening in the United States, but it can also be diagnosed through genetic testing.
Blood tests, including hemoglobin electrophoresis and genetic testing, are used to confirm the diagnosis and determine the specific type of SCD.

Treatment:

The management of SCD in children focuses on preventing and managing complications. Treatment options may include:
- Hydroxyurea: This medication can reduce the frequency of pain crises and other complications.
- Blood Transfusions: Regular blood transfusions may be necessary to manage anemia and other complications.
- Pain Management: Pain crises are treated with pain medications and supportive care.
- Antibiotics: Penicillin prophylaxis is often prescribed to prevent infections.
- Vaccinations: Children with SCD require vaccinations to protect against certain infections.
- Stem Cell Transplant: In severe cases, a stem cell transplant may be considered as a potential cure.

Prognosis:

The prognosis for children with SCD varies depending on the severity of the disease and the management provided.
Advances in medical care and treatments have improved the outlook for many children with SCD, allowing them to lead relatively normal lives.

Children with sickle cell disease should receive ongoing care from pediatric hematologists and healthcare providers experienced in managing the condition. Regular check-ups, proper medication management, and preventive measures are crucial to help children with SCD live healthier lives and reduce complications.