Sickle Cell – GRAAHI

Sickle Cell Disease

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With proper treatment and support people with SCD can live full lives and enjoy most of the activities that other people do.

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What is Sickle Cell Disease?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round and move through small blood vessels to carry oxygen to all body parts.
In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells.
When they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome, and stroke.
A child gets sickle cell disease (SCD) when he or she receives two sickle cell genes, one from each parent.
The only cure for sickle cell disease is a bone marrow or stem cell transplant.

symptoms

Skin that’s paler than normal
Yellowish skin, eyes, or mouth (jaundice)
Difficulty concentrating
Shortness of breath, especially during exercise
Dark-colored urine
Fever
Weakness
Dizziness
Confusion
Inability to handle physical activity
Enlarged spleen and liver
Increased heart rate
Heart murmur

Risk Factors

People of African descent, including African Americans (among whom 1 in 12 carries a sickle cell gene).
Having a family history of sickle cell disease increases your risk for the disease.

Ways to Prevent

Sickle cell anemia is an inherited blood disorder. Because it’s a genetic condition someone is born with, there is no way to prevent the disease, so scientists are constantly investigating ways that the disease can be stopped before it passes to the next generation.

COMPLICATIONS

Sickle cell anemia can lead to a host of complications, including:

Stroke. Sickle cells can block blood flow to an area of the brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness. If your child has any of these signs and symptoms, seek medical treatment immediately. A stroke can be fatal.
Acute chest syndrome. A lung infection or sickle cells blocking blood vessels in the lungs can cause this life-threatening complication, resulting in chest pain, fever and difficulty breathing. It might require emergency medical treatment.
Pulmonary hypertension. People with sickle cell anemia can develop high blood pressure in their lungs. This complication usually affects adults. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.
Organ damage. Sickle cells that block blood flow to organs deprive the affected organs of blood and oxygen. In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including kidneys, liver and spleen, and can be fatal.
Splenic sequestration. A large number of sickle cells can get trapped in the spleen, causing it to enlarge and possibly causing belly pain on the left side of the body. This can be life-threatening. Parents of children with sickle cell anemia should learn to regularly feel their child’s spleen for enlargement.
Blindness. Sickle cells can block tiny blood vessels that supply the eyes. Over time, this can lead to blindness.
Leg ulcers. Sickle cell anemia can cause painful open sores on the legs.
Gallstones. The breakdown of red blood cells produces a substance called bilirubin. A high level of bilirubin in the body can lead to gallstones.
Priapism. In this condition, men with sickle cell anemia can have painful, long-lasting erections. Sickle cells can block the blood vessels in the penis, which can lead to impotence over time.
Deep vein thrombosis. Sickling of red cells can cause blood clots, increasing the risk of a clot lodging in a deep vein (deep vein thrombosis) or a lung (pulmonary embolism). Either can cause serious illness or even death.

DIAGNOSIS/detection

Sickle cell anemia is diagnosed through blood testing. A blood test will demonstrate the following situations:

- Your hemoglobin is normal.
- You have sickle cell anemia or another sickle cell disease.
- You have sickle cell trait (meaning you are a carrier for the disease).
- All newborns in the United States are now tested for sickle cell disease and sickle cell trait. Sickle cell disease can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta.
- Early diagnosis is important to better prevent complications.

TREATMENT

Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms, and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a stem cell transplant might cure the disease.

Medications
Hydroxyurea (Droxia, Hydrea, Siklos). Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. But it can increase the risk of infections. Don’t take the drug if you’re pregnant.
L-glutamine oral powder (Endari). The FDA recently approved this drug for treatment of sickle cell anemia. It helps in reducing the frequency of pain crises.

Crizanlizumab (Adakveo). This drug, given by injection, can help reduce the frequency of pain crises in adults and children older than 16. Side effects can include nausea, joint pain, back pain and fever.

Voxelotor (Oxbryta). This drug is used to treat sickle cell disease in adults and children older than 12. Taken orally, this drug can lower the risk of anemia and improve blood flow throughout the body. Side effects can include headache, nausea, diarrhea, fatigue, rash and fever.
Pain-relieving medications. Your doctor might prescribe narcotics to help relieve pain during sickle cell pain crises.

Preventing infections
Children with sickle cell anemia might receive penicillin between the ages of about 2 months old until at least age 5 years. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to children with sickle cell anemia.
Adults who have sickle cell anemia might need to take penicillin throughout their lives if they’ve had pneumonia or surgery to remove the spleen.
Childhood vaccinations are important for preventing disease in all children. They’re even more important for children with sickle cell anemia because their infections can be severe.
Your child’s doctor should ensure that your child receives all the recommended childhood vaccinations, as well as vaccines against pneumonia, meningitis, hepatitis B and an annual flu shot. Vaccines are also important for adults with sickle cell anemia.
During the COVID 19 pandemic, people with sickle cell anemia should take extra precautions, such as staying isolated at home as much as possible and for those who are eligible, getting vaccinated.

Surgical and other procedures

Blood transfusions. These 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 a supply of donated blood, then given through a vein to a person with sickle cell anemia. This increases the number of normal red blood cells, which helps reduce symptoms and complications.
Risks include an immune response to the donor blood, which can make it hard to find future donors; infection; and excess iron buildup in your body. Because excess iron can damage your heart, liver, and other organs, you might need treatment to reduce iron levels if you undergo regular transfusions.
Stem cell transplant. Also known as bone marrow transplant, this procedure involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn’t have sickle cell anemia.
Because of the risks associated with a bone marrow transplant, including death, the procedure is recommended only for people, usually children, who have significant symptoms and complications of sickle cell anemia. A stem cell transplant is the only known cure for sickle cell anemia.

Clinical trials are ongoing to address stem cell transplantation in adults and gene therapies.

CURE

The only therapy approved by the FDA that may be able to cure SCD is a bone marrow or stem cell transplant.
Bone marrow is a soft, fatty tissue inside the center of the bones, where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working properly.

Bone marrow or stem cell transplants are very risky and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are most common in cases of severe SCD for children who have minimal organ damage from the disease.

STATISTICS FOR PEOPLE OF COLOR

According to the CDC, sickle cell disease occurs in 1 of every 365 Black Americans. The disease occurs in 1 of every 16,300 Hispanic Americans.
About 1 in 13 Black children in the United States are born with sickle cell trait.
According to the American Society of Hematology, the condition also affects people of Middle Eastern, Asian, Indian, and Mediterranean descent.