Sickle cell disease, also known as sickle cell anemia, is an inherited disorder that affects an estimated 100,000 Americans. While sickle cell disease can affect anyone, it is most common in people whose ancestors came from Africa, the Middle East, India and Spanish-speaking regions in the Western Hemisphere (Central and South America except Brazil, Spain and the Caribbean). Currently, the only potentially curative treatment available for sickle cell disease is blood and marrow transplant.
The University of Kansas Cancer Center is uniquely qualified to support patients with sickle cell disease through transplant. One of just 53 National Cancer Institute-designated comprehensive cancer centers in the nation, we offer unparalleled expertise in using blood and marrow transplant to treat both cancerous and noncancerous blood disorders, including sickle cell disease. In our program’s history, our team has performed more than 4,000 transplant procedures, including the first in Kansas to treat adult sickle cell disease.
What is sickle cell disease?
In healthy red blood cells, hemoglobin carries oxygen, creating a smooth, round cell shape. With sickle cell disease, defective hemoglobin causes red blood cells to become stiff, taking on a sickle or crescent shape that blocks blood flow. While normal blood cells live 90-120 days, sickle cells only last 10-20 days. Making new cells at this rate becomes difficult for the body, resulting in reduced red blood cells and anemia. In addition, sickle cells can stick to blood vessel walls, stopping or slowing the flow of blood. When this occurs, oxygen cannot reach the nearby tissue. This can cause sudden and severe pain.
A defective gene called the sickle cell gene is responsible for the disease. People with sickle cell disease are born with 2 sickle cell genes, 1 from each parent. If you only receive 1 sickle cell gene, you have what is called sickle cell trait. When this occurs, you are generally healthy and do not develop symptoms; however, you can pass the gene on to your children.
In the United States, most cases of sickle cell disease affect people of African American or Hispanic descent. About 1 in 13 African American babies are born with the sickle cell trait while 1 in 365 are born with the disease.
Sickle Cell Disease Symptoms and Risks
In the United States, most parents learn their child has sickle cell disease long before symptoms occur. Symptoms typically start around 6 months of age and include:
- Jaundice and icterus, or a yellowing of the skin and eyes
- Fatigue and fussiness from the anemia
- Dactylitis, or painful swelling in the hands and feet
As sickle cell disease progresses, symptoms can vary from person to person. Acute and chronic symptoms as well as common complications often occur and may include:
When the cells stick to the blood vessel walls and disrupt the delivery of oxygen to tissue, acute severe pain occurs. This can be sharp, intense, stabbing or throbbing pain. The most common areas of pain include the abdomen, arms, chest, lower back and legs.
In addition to acute pain episodes, many teens and adults living with sickle cell disease also suffer from chronic pain.
Anemia in people with sickle cell disease is usually mild to moderate. However, severe anemia can occur and be life-threatening.
Sickle cells often damage the spleen, an organ necessary for fighting infections. With a damaged spleen, people have increased risk of infections such as meningococcus, staphylococcus, salmonella and haemophilus influenza type B.
When sickle cells infect the lungs, oxygen levels drop. This causes damage to the lung tissue and can result in chest pain, coughing, fever, shortness of breath and rapid breathing.
When oxygen delivery to the brain slows or stops, this can result in a stroke or stroke-like symptoms. This can include memory issues, difficulty thinking and processing information and more.
A lack of oxygen delivery from sickle cell disease can damage the blood vessels and retinas in the eye. This can cause light-sensitivity as well as visual impairment or loss.
Lack of oxygen in the blood vessels can contribute to heart problems, such as an enlarged heart. Frequent blood transfusions can also contribute to heart damage.
Damage from sickle cells in the blood vessels of the lungs can make it harder for the heart to pump blood to this area, causing an increase in lung blood vessel pressure. This can cause shortness of breath and fatigue.
The kidneys are sensitive to changes in the blood by sickle cells and this can affect the production of concentrated urine. As a result, you may experience frequent or uncontrolled urination. Liver damage is also common.
As the disease progresses, small sores can develop on the legs. While some will heal quickly, others can take long time periods to heal or not heal at all.
Sickling in the bones can also occur and is most common in the bones of the hip, shoulder, knees and ankles. This occurs in teens and adults and can lead to severe joint damage or the need for joint replacement.
Sickle Cell Disease Screening and Diagnosis
All newborns in the U.S. undergo a blood test to screen for sickle cell disease. This test can also be done before the baby is born through amniotic fluid. As an adult, you can learn with a simple blood test whether you have the sickle cell gene.
A future without limits
Sickle Cell Disease Treatment
There are several treatments available, which work to reduce pain, anemia and other complications of sickle cell disease. Options include hydroxyurea (Hyrdrea), Endari (L-glutamine therapy), voxelotor (Oxbryta), crizanlizumab-tmca (Adakveo), blood exchange transfusion, simple blood transfusion, and blood and marrow transplant. Talk with your doctor about what treatment options are best for you.
A blood and marrow transplant is currently the only potential cure for some people. Transplants typically occur in children with a matched donor, but only 1 in 10 children have a matched donor who does not have sickle cell disease or trait. Transplants carry more risk for adults.