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Sickle Cell Anemia (SCD)Sickle cell anemia (also called sickle cell disease or SCD) is an inherited disease - a condition in which there are not enough healthy red blood cells to carry oxygen throughout the body. Normal healthy red blood cells are flexible and round, move easily through blood vessels and carry oxygen to all parts of your body. In people with sickle cell anemia, the red blood cells are not round. Instead they are curved like a crescent or sickle. This is because the hemoglobin in the red blood cell is abnormal. The sickle-shaped red blood cells cannot move easily and can block small blood vessels. Sickle Cell Disease Symptoms & DiagnosisSickle cell anemia is the most common genetic disease in the world and it affects millions of people. It is most common in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia.In the United States, sickle cell anemia affects about 70,000 people. It mainly affects African Americans, with the condition occurring in about 1 in every 500 African American births. About one in 12 African Americans has sickle cell trait.1 Hispanic Americans also are affected; the condition occurs in 1 out of every 1,000 to 1,400 Hispanic American births.2 SymptomsThe signs and symptoms of sickle cell anemia (sickle cell disease or SCD) vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized frequently for treatment. Sickle cell anemia is present at birth, but many infants don't show any signs until after 4 months of age. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to organ complications from the disease.Signs and symptoms of anemia include:
Sickle Cell and PainSudden pain affecting different parts of the body is a common symptom of sickle cell anemia. This pain is called a "sickle cell crisis." Sickle cell crises often affect the bones, lungs, abdomen, arms, legs, and joints.A sickle cell crisis occurs when sickled red blood cells form clumps in the bloodstream. (Other cells also may play a role in this clumping process.) These clumps of cells block blood flow through the small blood vessels in the limbs and organs. This can cause pain and organ damage. The pain from sickle cell crisis can be acute (sudden) or chronic (long-lasting), but acute pain is more common. Acute pain comes suddenly and can range from mild to very severe. The pain usually lasts from hours to a few days. Chronic pain often lasts for weeks to months. Chronic pain can be hard to bear and mentally draining. This pain may severely limit daily activities, work and education. Almost all people who have sickle cell anemia have painful crises at some point in their lives. Some have these crises less than once a year. Others may have 15 or more pain crises in a year. DiagnosisEarly diagnosis of sickle cell anemia is very important so that children who have the condition can get proper treatment. Almost all states in the United States now test newborns for sickle cell anemia with a blood test. Anyone can request a sickle cell test.Although a blood test can diagnose sickle cell anemia, doctors are not able to predict how seriously the disease will affect individual patients. There is no simple test to identify which patients will have almost normal life spans, very few painful crises, and little damage to their body due to their sickled cells, and which patients will have frequent, painful crises and drastically reduced life spans. For this reason, deciding on a course of treatment can be very difficult. CausesSickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They inherit two copies of the abnormal sickle cell gene-one from each parent, and make abnormal sickled hemoglobin.Treatment OptionsSickle cell anemia has no widely available cure. However, certain medicines such as hydroxyurea, antibiotics and blood transfusions (for some) can relieve symptoms of this disease. In addition, when complications happen these will require treatment and sometimes require a stay in the hospital. For some with sickle cell anemia, these treatments are sufficient to control their disease, and it allows them to live like someone without sickle cell anemia, even though they have the disease. For others this is not the case. It is for this group of persons who do not respond to medical treatment, a transplant of bone marrow or cord blood offers the possibility of curing the disease.Bone Marrow or Cord Blood TransplantBone marrow or cord blood transplant can offer the chance for a possible cure for patients with severe sickle cell anemia, but it has serious risks and may not be an option for all patients. A bone marrow or cord blood transplant replaces the abnormal cells in the bone marrow with healthy blood-forming cells from a family member or an unrelated donor or cord blood unit.A transplant may be a good option for patients who have a suitably matched donor or cord blood unit and are healthy enough to tolerate a transplant. The donor for a transplant must closely match the patient's tissue type. The best donor is usually a sibling. Each sibling has a 25% chance of being a match. However, since sickle cell anemia is inherited, many people with sickle cell anemia do not have a healthy matched donor in their family. For patients who do not have a suitable donor in their family, doctors may search the National Marrow Donor Program (NMDP) Registry for a matching adult volunteer donor or cord blood unit.
If you or your child has sickle cell anemia, it is important to see a doctor who is an expert in the disease. If your doctor has not treated other patients with sickle cell anemia, ask him or her to refer you to an expert for consultation.
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