​Adult Sickle Cell Disease

What Is Adult Sickle Cell Disease?

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).

Healthy red blood cells vs. sickle cells

Healthy red blood cells and sickle cells have different characteristics. Healthy red blood cells:

• Carry oxygen to all parts of the body and remove carbon dioxide.
• Glide easily through blood vessels.
• Have a disc-like shape with a concave center — much like a doughnut without a hole.
• Have a life cycle of about 120 days. The bone marrow constantly makes new red blood cells to replace the ones that die.

Sickle cells:

• Block the flow of healthy, oxygenated blood to the body’s organs and tissues.
• Have a crescent or sickle shape.
• Only live for 10 to 20 days. The bone marrow cannot produce red blood cells quickly enough to replace the dying sickle cells.
• Stick together in clumps and become lodged in blood vessels.

What is the sickle cell trait?

People with the sickle cell trait (HbAS):

• Also have the gene for normal hemoglobin, HbA.
• Carry only one sickle cell gene, the HbS gene.
• Don’t have symptoms of sickle cell disease, but can pass the trait on to their child. If the other parent also passes the HbS gene trait to their child, that child will have sickle cell disease.

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:

• Exposure to very high altitude.
• Extreme physical exertion.
• Severe dehydration.

What are the types of adult sickle cell disease?

The various sickle cell gene variations cause different forms of the disease. All forms can cause complications. Types of adult sickle cell disease include:

Sickle cell hemoglobin S disease or homozygous SS disease (sickle cell anemia or HbSS)

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 and most severe form of sickle cell disease. With this variant, the person has no (or very little) normal hemoglobin (HbA).

Sickle cell hemoglobin C disease

People with this disease inherit one gene for sickle cell and one gene for hemoglobin C, another hemoglobin disease. This combination leads to misshapen red blood cells; however, their symptoms are generally less severe than those of people with two sickle cell genes.

Sickle cell hemoglobin E disease

Common in populations of southeast Asia, people with this variant may not exhibit any symptoms, or they may experience mild to moderate anemia symptoms.

Hemoglobin S-beta-thalassemia

When a person inherits the gene for thalassemia along with the gene for sickle cell disease, it causes 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.

How common is adult sickle cell disease?

More than 70,000 Americans, and millions globally, have sickle cell disease. Although sickle cell disease typically affects those with African heritage and Hispanics with Caribbean ancestry, other heritages found to carry the trait include:

• Indian.
• Latin American.
• Mediterranean.
• Middle Eastern.
• Native American.

What causes adult sickle cell disease?

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.

Back to top

What Are the Signs and Symptoms of Adult Sickle Cell Disease?

Adults with sickle cell disease can experience the same signs and symptoms as children. Although the signs and symptoms of sickle cell disease vary from person to person, most people experience anemia-like symptoms and pain.

Anemia symptoms associated with adult sickle cell disease

Common symptoms include:

• Cold hands and feet.
• Dizziness.
• Fatigue (feeling weak and unusually tired).
• Headaches.
• Jaundice (yellow tinted skin or whites of eyes).
• Unusually pale skin and mucous membranes (tissue inside the nose, mouth, and elsewhere inside the body).

Pain symptoms associated with sickle cell anemia

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:

• Abdomen.
• Bones.
• Joints.
• Lungs.

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:

• Dehydration.
• Infection.
• Menstruation.
• Sudden changes in temperature.

Although 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.

When should I see a doctor about my adult sickle cell disease symptoms?

Sickle cell disease is a lifelong genetic condition that is usually diagnosed shortly after birth and requires lifelong management. If you experience complications or worsening symptoms, schedule an appointment with your doctor right away. For severe symptoms, go to the nearest hospital emergency department or dial 911.

Back to top

How Do You Diagnose Adult Sickle Cell Disease?

Sickle cell disease is an inherited blood disorder usually diagnosed at birth. Most people with the disease begin to show symptoms by four months of age or shortly thereafter.

Early diagnosis is crucial, so doctors can take measures to ease some of the 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.

What to expect during your visit

At UPMC, 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 to diagnose adult sickle cell disease

Tests may include:

• Sickle cell test (sickledex or Hgb S test) — Determines if you have the abnormal hemoglobin that causes sickle cell trait and sickle cell disease.
• Hemoglobinopathy test — Checks for hemoglobin abnormalities (many states include this in routine newborn blood screening tests).
• Hemoglobin electrophoresis — Determines the specific type of abnormal hemoglobin present and at what levels it exists in the blood stream. Abnormal test results may indicate sickle cell disease or another hemoglobinopathy.
• Echocardiogram (Doppler ultrasound of the heart) — Screens for pulmonary hypertension.

Adult sickle cell disease prognosis

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. Your prognosis will depend on your overall health, the severity of your symptoms, the type of sickle cell disease you have, and other factors. However, advances in sickle cell treatment are now allowing many people to survive well into adulthood after their diagnosis.

Back to top

How Do You Treat Adult Sickle Cell Disease?

The primary goals of adult sickle cell disease treatment are to control symptoms and reduce the number of pain crises. Treatments may include:

Ongoing monitoring

Testing the bilirubin and serum creatinine levels in your blood can help better manage your sickle cell disease. Tests include:

• Bilirubin — 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 chances of 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:

• Blood oxygen level test.
• Complete blood count (CBC).
• Serum potassium.

Managing complications

Treatments to manage pain and other complications of sickle cell disease include:

Treatment for pain crises

Treatment for pain crises includes:

• Blood transfusions.
• Fluids.
• Pain medications.

Acute chest syndrome treatment

Hydroxyurea is a new treatment that may help reduce the need for frequent blood transfusions and diminish the frequency of acute chest syndrome and pain crises.

Pulmonary hypertension (PH) treatment

UPMC offers a number of treatment options for adults who have sickle cell disease with PH (high blood pressure in the lungs), or whose lungs have become damaged by multiple incidents of sickle cell blockage.

Support groups help people with adult sickle cell anemia cope with the psychosocial aspects of PH and provide a venue to discuss new treatments and medical information.

Other treatments for adult sickle cell disease complications

Other treatments may include:

• Dialysis or kidney transplant to treat kidney damage.
• Frequent blood transfusions to reduce stroke risk.
• Hip replacement surgery to treat avascular necrosis of the hip (death of the hip bone due to poor blood supply).
• Laser eye surgery to treat vision problems caused by retinal damage.
• Surgery to remove the gallbladder if gallstones develop.
• Wound care for sickle cell leg ulcers.

Bone marrow and stem cell transplants

Although bone marrow and stem cell transplants have the potential to cure sickle cell disease, they are currently not an option for most people with sickle cell disease. Frequently, people with sickle cell disease cannot locate well-matched stem cell donors.

Supportive services for adults with sickle cell disease

We offer counseling to address emotional and social challenges of living with sickle cell disease. We also provide treatment for the overuse or abuse of narcotic pain medications used to alleviate the intense pain that occurs during pain crises.

Back to top