What is sickle cell disease?
Sickle cell disease is a lifelong problem with your red blood cells. It's something you’re born with that causes some of your red blood cells to be unusually shaped. Instead of being shaped like disks, they're shaped like sickles (crescents).
The sickle shape of the red blood cells is because they contain an abnormal form of hemoglobin. Hemoglobin is the substance in red blood cells that carries oxygen. The sickle shape causes the red blood cells to break easily and not fit through small blood vessels to deliver oxygen.
Sickle cell disease is most common in people with African or Black American ancestry
Sickle cell disease makes your red blood cells break apart easily, causing low blood count (anemia)
The abnormal blood cells can't pass easily through your smallest blood vessels, causing pain, poor growth, and eventually problems with organs such as your kidneys and spleen
People with sickle cell disease are more likely to get certain infections
Doctors diagnose sickle cell disease with a blood test
Treatment is aimed at relieving symptoms, but stem cell therapy may offer a cure for some people
What causes sickle cell disease?
Sickle cell disease is caused by genes your parents pass down to you. It runs in families. You need two sickle cell genes, one from each parent, to have sickle cell disease.
What is sickle cell trait?
Sickle cell trait is when you have only one copy of the sickle cell gene. If the other copy of the gene is normal, then you don't have sickle cell disease.
If two people with sickle cell trait have children, half of their children will have the trait, one quarter will have sickle cell disease, and one quarter will be normal. People with sickle cell disease (not just the trait) are often unable to have children.
What are the complications of sickle cell disease?
Not all red blood cells have the sickle shape when you have sickle cell disease. The more sickle-shaped cells you have, the more likely you are to have symptoms and complications. Low oxygen levels and other factors make your red blood cells more likely to become sickle shaped.
The abnormal red blood cells break down easily. The breakdown can cause:
Low blood count (anemia)
Yellow color of the eyes and sometimes skin (jaundice)
The abnormal red blood cells don't pass through tiny blood vessels easily, so organs don't get enough blood. When blood flow is blocked, your symptoms depend on what body parts are affected:
Bones: Pain (painful crisis), damage to the hip joints
Brain: Stroke
Heart: Enlarged heart, heart failure
Kidneys: Kidney failure, kidney pain
Lungs: Acute chest syndrome
Penis: Priapism (prolonged, painful erection)
Skin: Chronic skin sores
Spleen: Shrunken spleen, which increases the risk of certain infections
Aplastic crisis is when your bone marrow suddenly stops making new red blood cells and your anemia gets worse very quickly.
What are the symptoms of sickle cell disease?
People who have sickle cell disease all have:
Symptoms of anemia (feeling weak and tired and looking pale)
Some people have few other symptoms, while others have severe symptoms with enormous disability and early death.
Sickle cell crisis
A sickle cell painful crisis is when some parts of your body aren't getting enough oxygen. Signs and symptoms of a painful crisis include:
Pain in your belly, back, or the long bones of your arms and legs
Fever
Throwing up
A sickle cell crisis can be caused by anything that lowers the oxygen level in your blood:
Strong exercise
Mountain climbing
Flying at high altitudes without enough oxygen
An illness
Acute chest syndrome is another problem that can occur during a sickle cell crisis. Acute chest syndrome usually occurs in children and can be deadly. Symptoms include:
Severe chest pain
Problems breathing from low oxygen levels in the blood
How can doctors tell if I have sickle cell disease?
Doctors will tell you have sickle cell disease from:
Blood tests
You may need further testing, depending on your symptoms.
What are screening tests for sickle cell disease?
Screening tests are tests doctors do on people who don't have symptoms. Doctors often do screening blood tests for sickle cell disease on:
Parents, brothers, and sisters of people with sickle cell disease
Newborn babies soon after birth
Doctors can also test you and your partner before you have a baby to see if you carry the sickle cell trait and may pass it on (carrier screening).
How do doctors treat sickle cell disease?
Doctors treat sickle cell disease to:
Prevent crises
Control anemia
Help with symptoms
Doctors treat sickle cell disease with:
Medicines
Folate, a vitamin that helps the body make new red blood cells
Sickle cell crisis usually requires an emergency department visit and may require a hospital stay. In the emergency department and hospital, doctors may give you:
Fluids in your vein (IV)
Pain medicine
Blood transfusions
Oxygen
Treatment for conditions that may have caused the crisis, such as an infection
Stem cell transplantation is a medical procedure that may cure sickle cell disease in some people, but it is very dangerous and so is used only in life-threatening situations. Stem cell or gene therapy may some day cure sickle cell disease safely.
How can I prevent sickle cell crisis and complications?
You should:
Avoid activities that lower the oxygen in your blood
See a doctor for all illnesses, even minor ones
Get vaccines
Doctors often have children with sickle cell anemia take penicillin from 4 months until 6 years old to help prevent infections that may cause a sickle cell crisis.
