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Sickle Cell Disease
Symptoms, Causes, Diagnosis and Treatment
Important Information You Should Know

Illustration of sickle cell heart circulation as a disease with normal hemoglobin and abnormal hemoglobin in a human artery anatomy. Heart cardiovascular medical illustration concept in 3D.

What is sickle cell disease?

Sickle cell disease is an inherited (passed from parent to child) disorder that affects the body's red blood cells. In this disease, defective hemoglobin (a substance that carries oxygen in the blood) causes the red blood cells to change shape (into a sickle) when oxygen is released to tissues.

Normal red blood cells are round and are able to move through small blood vessels in the body to deliver oxygen. In sickle cell disease, a chemical change in hemoglobin causes the substance to form long rods in the red blood cell as the hemoglobin releases oxygen. These rigid rods change the shape of the red blood cell into a sickle shape.

The disease gets its name because the faulty blood cells are shaped like sickles used to cut wheat. When the deformed cells go through blood vessels, they become stiff, distorted, clog the blood flow, and can break apart.

Individuals with sickle cell disease have hemoglobin "S," which may be homogenous or also be in combination with other abnormal hemoglobins (Hemoglobin C; Beta thalassemia trait or other rare Hemoglobin variants). Others without this disease have hemoglobin "A", which is the normal adult hemoglobin.

Sickle cell disease is found most often in African-Americans and Africans. However, other ethnic groups also can have sickle cell disease. In many states, the law requires newborn babies to be tested for sickle cell disease, regardless of ethnic background.

What causes sickle cell disease?

A chemical change in hemoglobin causes the substance to form long rods in the red blood cell as the hemoglobin releases oxygen. These rigid rods change the shape of the red blood cell into a sickle shape.

Sickle cell disease is not contagious. Children are born with sickle cell hemoglobin, which they inherit from their parents. Individuals might be carriers who have the sickle cell trait or might actually have sickle cell disease. People who inherit only one sickle cell gene are carriers, but people who inherit two sickle cell genes have sickle cell disease.

What are the symptoms of sickle cell disease?

Symptoms of sickle cell disease include:

• Fatigue

• Pain

• Anemia

• Swelling and inflammation of the joints

• Blood blockage in the spleen or liver

What are the medical problems of sickle cell disease?

Medical problems associated with sickle cell disease include:

• Respiratory illness known as acute chest syndrome

• Pain episodes

• Stroke

• Priapism (a persistent, usually painful, erection that lasts for more than four hours)

• Infections

Sickle cell disease can also cause damage to bones and many organs, including the heart, lungs, kidneys, and spleen.

How is sickle cell disease diagnosed?

Sickle cell disease is diagnosed by examining a sample of blood. The test used is hemoglobin electrophoresis, which determines the type of hemoglobin one has, and if he or she is a carrier or has the disease. When the abnormal sickle-shaped cells in the blood are identified, a diagnosis is made.

How is sickle cell disease treated?

Treatment of sickle cell disease depends upon the symptoms a person is experiencing. Treatment includes early diagnosis, health promotion, and symptom prevention. Some medicines that can be used to treat sickle cell disease include:

• Pain medications, including opioids and anti-inflammatory medicines

• Antibiotics

• Hydroyurea (e.g., Hydrea®and Droxia®)

• Iron chelation therapy ( Desferal®, Jadenu®, Exjade®)

• Folic acid

• Anticonvulsants such as gabapentin

Bone marrow transplant is a treatment modality that offers a cure for sickle cell disease. However, due to several complications that could occur, it is only offered to patients who have had serious complications from sickle cell disease.

What is the outlook for people with sickle cell disease?

People who have sickle cell disease have a reduced life expectancy. Some people with the disease can remain without symptoms for years, while others do not survive beyond infancy or early childhood. New treatments for sickle cell disease are improving life expectancy and quality of life. People with sickle cell disease can survive beyond their 50s with optimal management of the disease.


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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. For additional health information, please contact the Center for Consumer Health Information at the Cleveland Clinic (216) 444-3771 ☎ or toll-free (800) 223-2273 ☎ extension 43771. If you prefer, you may visit http://www.clevelandclinic.org/health/ or http://www.clevelandclinic florida.org.

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Live Long Lyndhurst is a Health and Wellness Initiative between the City of Lyndhurst, Cleveland Clinic Community Outreach, Legacy Village, Cleveland Metroparks at Acacia, The Fedeli Group, the YMCA, South Euclid - Lyndhurst Schools, Second Sole and Anthem BlueCross BlueShield.

Related:

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In Partnership With:
 

    

    

    


 

    

    

    

    
Anthem. Visit this partner website.