Sickle cell disease is one of a group of disorders also known as sickle cell disease. It affects the size of red blood cells, which carry oxygen to all parts of the body. In sickle cell anemia, some red blood cells are sickle or crescent moon shaped.
Symptoms of Sickle Cell Disease
They vary from person to person and may change over time. Signs and symptoms may include:
• Anemia. Sickle cells break down easily and die. Red blood cells usually live for about 120 days, after which they need to be replaced. But sickle cells usually die in 10 to 20 days, leading to a lack of red blood cells (anemia). Without enough red blood cells, the body does not get enough oxygen and this leads to fatigue.
• Episodes of pain. Pain develops when sickle-shaped red blood cells block the flow of blood through small blood vessels to your chest, abdomen, and joints.
The pain varies in intensity and can last from a few hours to a few days. Some people have only a few pains a year.
Some teens and adults with sickle cell Disease anemia also have chronic pain, which can be caused by bone and joint damage, ulcers, and other causes.
• Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells that block blood circulation in the hands and feet.
• Frequent infections. Sickle cells Disease can damage the spleen, increasing the chance of infection. Infants and children with sickle cell anemia usually receive vaccinations and antibiotics to prevent potentially life-threatening infections such as pneumonia.
• Delayed growth or puberty. A lack of healthy red blood cells can slow growth in infants and children and delay puberty in teens.
• Vision problems. The small blood vessels that supply the eye may be associated with sickle cells. This can damage the retina – the part of the eye that processes visual images – and cause vision problems.
Diagnosis of Sickle Cell Disease
A blood test can check the form of hemoglobin that underlies sickle cell anemia. If you or your child has the sickle cell gene, you will probably be referred to a genetic counselor.
Treatment of Sickle Cell Disease
Management of sickle cell anemia is usually aimed at avoiding episodes of pain, relieving symptoms, and preventing complications. Treatment may include medications and blood transfusions. For some children and teens, a stem cell transplant can cure Sickle Cell disease.
Prevent Infection
Children with sickle cell Disease anemia can receive penicillin from about 2 months of age to at least 5 years of age. Doing so helps prevent infections such as pneumonia, which can be life-threatening in children with sickle cell disease anemia.
Adults who have sickle cell Disease anemia may need to take penicillin for life if they have had pneumonia or surgery to remove the spleen.
Childhood vaccinations are important for disease prevention in all children. They are even more important for children with sickle cell disease anemia because their infections can be serious.
Your child’s doctor should make sure that your child receives all recommended childhood vaccines, as well as vaccines against pneumonia, meningitis, hepatitis B, and an annual flu shot.
During the COVID 19 pandemic, people with sickle cell anemia should take extra precautions, such as isolating themselves at home as much as possible and getting vaccinated for those who are eligible.
Surgical and Other Procedures
• Blood transfusions. They are used to treat and prevent complications such as stroke in people with sickle cell disease.
In a red blood cell transfusion, red blood cells are removed from the donated blood supply, then given through a vein to a person with sickle cell anemia. It increases the normal red blood cell count, which helps reduce symptoms and complications.
Risks include an immune reaction to donor blood, which can make it difficult to find future donors; infection; and a buildup of excess iron in your body. Since excess iron can damage your heart, liver, and other organs, you may need treatment to lower your iron levels if you have regular blood transfusions.
• Stem cell transplantation. The procedure usually uses a matching donor, such as a sibling, who does not have sickle cell anemia.
Because of the risks associated with a bone marrow transplant, including death, the procedure is only recommended for people, usually children, who have significant symptoms and complications of sickle cell anemia. Stem cell transplant is the only known treatment for sickle cell disease anemia.
Clinical trials are underway to address stem cell transplantation in adults and gene therapies.
