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All red blood cells (erythrocytes) contain a protein called hemoglobin. This protein allows the blood cells to carry oxygen to the body’s tissues.
Sickle cell disease is an inherited blood disorder in which the body produces red blood cells with abnormal hemoglobin, known as hemoglobin S (HbS).
Sickle cell disease is a lifelong condition; people with sickle cell disease have it from birth, inheriting two genes for the abnormal, sickle hemoglobin — one from each parent.
Over 70,000 Americans, and millions globally, have sickle cell disease and suffer from its complications.
While sickle cell disease typically affects those with African heritage and Hispanics with Caribbean ancestry, other heritages found to carry the trait include:
When your red blood cell count is lower than normal, your doctor will refer to the condition as anemia. Sickle cell anemia is the most common form of sickle cell disease.
| Healthy Red Blood Cells | Sickle Cells |
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The signs and symptoms of sickle cell disease involve those associated with anemia in general and pain.
Complications from sickle cell disease cause other types of symptoms.
People with the sickle cell trait (HbAS):
In rare cases, people with sickle cell trait can develop complications similar to those of sickle cell disease.
Factors that may increase this risk, include:
The various sickle cell gene variations cause different forms of the disease. All forms can cause an individual to suffer complications associated with it.
With this variant, the person has no (or very little) normal hemoglobin (HbA). Doctors refer to this gene variation as HbSS.
Unfortunately, it's the most common and most severe type of sickle cell disease.
People with this type have both HbS and HbC (HbSC) and don’t suffer symptoms of sickle cell anemia.
But, when the HbS and C genes combine, people will develop sickle cell disease. Sickled cells will block blood vessels (vaso-occlusions), resulting in organ damage and other complications commonly associated with HbSS.
Common in populations of Southeast Asia, people with this variant may not exhibit any symptoms, or they may experience mild to moderate anemia symptoms.
When a person inherits the gene for thalassemia along with the gene for sickle cell disease, they have this form of the disease.
It generally causes milder symptoms than those associated with sickle cell disease, but can also cause severe symptoms and complications as dangerous as those of sickle cell disease.
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Anyone who has sickle cell disease should seek care from a health care facility with a specialized adult sickle cell disease program. Contact the UPMC Adult Sickle Cell Disease Program at 412-692-4724 to schedule an appointment.
Sickle cell disease is an inherited blood disorder usually diagnosed at birth. Most people with the disease begin to show symptoms by 4 months of age or shortly thereafter.
Adult sickle cell disease can cause the same signs and symptoms as in children.
Early diagnosis is crucial, so doctors can take measures to ease some of the devastating effects of sickle cell anemia. Preventive steps can significantly increase life expectancy and decrease the risk of infection or other complications of sickle cell disease.
At UPMC's Adult Sickle Cell Disease Program, we're here to help you take those steps to manage your adult sickle cell disease.
Although the signs and symptoms of sickle cell disease vary from person to person, most people experience anemia-like symptoms and pain.
Common symptoms include:
Individuals with sickle cell anemia often experience sudden, intense pain throughout the body. These vaso-occlusive crises occur when sickle cells block the proper flow of blood to the extremities (i.e. arms and legs) and organs.
These crises can affect any area of the body, but often involve the:
Although the pain is most often acute — lasting for a relatively short time, such as hours to several days — some people experience chronic pain. Chronic pain can endure for weeks or months.
Coping with this pain may cause mental exhaustion and diminish a person’s ability to engage in normal daily activities.
Repeated bouts of sickle cell crises can permanently damage organs. This damage occurs more frequently in adults than in children.
Some things that can contribute to a sickle cell crisis include:
While you can’t control all factors that may cause a sickle cell crisis, you can take preventive measures to reduce the risk of sickle cell complications.
Some adults with sickle cell disease may develop complications and experience associated symptoms.
Sickle cells hemolyze inside blood vessels in the lungs, causing them to narrow and making it difficult for the heart to pump blood through the lung system. This causes blood pressure to rise in the lungs' blood vessels, resulting in pulmonary hypertension (PH). Primary symptoms include fatigue and shortness of breath. At UPMC, our adult sickle cell disease patients receive the latest PH treatments available through our Comprehensive Pulmonary Hypertension Program.
This life-threatening condition is a form of lung injury linked directly to sickle cell anemia. Causes of acute chest syndrome include blockage of the blood vessels in the lungs by sickle cells or bone marrow fat, or an infection like pneumonia.
Multiple episodes may result in permanent lung damage. Treatment often requires emergency transfusion of normal blood.
Signs and symptoms may include:
- Chest pain
- Shortness of breath
- Fever
- Abnormal chest x-ray
People with sickle cell disease are at risk for two types of stroke.
The first, occurring more frequently in children than in adults, happens when a blood vessel in the brain becomes damaged or blocked with sickle cells. The other occurs when a blood vessel in the brain ruptures.
Both types of stroke can result in permanent brain damage, paralysis, or death.
This painful condition occurs when sickle cells obstruct blood flow out of the erect penis.
Untreated, priapism can damage penile tissue and lead to permanent impotence.
These ulcers occur on the lower third of the leg around the ankle bones. An individual may develop one or several ulcers; they cause severe pain and often take months to heal.
Experts don’t have a clear understanding why sickle cell ulcers develop, but they happen more in people with hemolytic anemia and pulmonary hypertension.
Damage to the spleen begins at 6 months of age. A splenic crisis occurs when the spleen becomes blocked with sickle cells. The spleen may enlarge and cause intense abdominal pain.
Depending on the type of splenic crisis, either the spleen swells full of blood or the blocked blood flow causes damage and death to parts of the spleen. Loss of splenic function increases the risk of serious blood infections.
While multiple organ failure rarely occurs in adults with properly managed sickle cell disease, it is a serious complication. It can occur during an unusually intense and severe pain crisis.
Common symptoms include:
- Labored breathing
- Tachycardia (rapid heartbeat)
- Fever
- Changes in mental status (i.e. confusion)
At the UPMC Adult Sickle Cell Disease Program, we will obtain a complete medical history and conduct a physical exam. We may also discuss your family history and review newborn screening results.
Tests may include:
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Adult sickle cell disease requires ongoing monitoring and treatment, even when you feel healthy. Contact the UPMC Adult Sickle Cell Disease Program at 412-692-4724 to schedule an appointment.
Sickle cell disease is a lifelong condition that requires close monitoring by health care providers who specialize in managing and treating adult sickle cell disease.
The team at UPMC's Adult Sickle Cell Disease Program in Pittsburgh, Pa., has this expertise. We use a holistic treatment approach, focusing on both the medical and psychosocial needs of our patients.
The primary goals of adult sickle cell disease treatment are to control symptoms and reduce the number of pain crises.
Testing the bilirubin and serum creatinine levels in your blood can help us better manage your sickle cell disease.
People with sickle cell anemia are at risk for developing jaundice and painful gallstones (caused by too much bilirubin) because their red blood cells die much more rapidly than those of healthy individuals. We monitor bilirubin so we can take measures to lower your levels and reduce your chance getting gallstones.
Serum creatinine
This test evaluates kidney function. People with sickle cell disease can experience diminished kidney function and intense pain when sickle cells block tiny blood vessels in the kidneys. When the kidneys are not functioning properly, creatinine levels in the blood rise.
Other blood tests for monitoring the health of adults with sickle cell disease include:
To manage pain and other common complications of sickle cell disease, we offer the following treatments at the UPMC Adult Sickle Cell Disease Program:
| Common Complications | Treatments |
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| Pain crises |
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| Acute chest syndrome |
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| Pulmonary hypertension (PH) |
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| Stroke |
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| Gallstones |
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| Sickle cell leg ulcers |
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| Kidney disease due to multiple vaso-occlusive episodes involving the renal system |
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| Avascular necrosis of the hip (death of the hip bone due to poor blood supply) |
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| Eye problems |
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Here are some other ways you can manage your adult sickle cell disease to help prevent complications.
To reduce the risk of infection:
Be sure to stay hydrated and take a folic acid vitamin supplement every day. The body needs folic acid to produce red blood cells.
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Contact the UPMC Adult Sickle Cell Disease Program at 412-692-4724 to schedule an appointment.
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