Download Sickle Cell Anemia:

Sickle Cell Anemia:
Information from the National Institute of Health
Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease
Sickle cell anemia is a disease passed down through families in which red blood cells form an
abnormal crescent shape. (Red blood cells are normally shaped like a disc.)
Causes, incidence, and risk factors
Hemoglobin is a protein inside red blood cells that carries oxygen. Sickle cell anemia is caused
by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin S distorts the shape of red
blood cells, especially when exposed to low oxygen levels.
The distorted red blood cells are shaped like crescents or sickles. These fragile, sickle-shaped
cells deliver less oxygen to the body's tissues. They can also clog more easily in small blood
vessels, and break into pieces that disrupt healthy blood flow.
Sickle cell anemia is inherited from both parents. Sickle cell disease is much more common in
people of African and Mediterranean descent. It is also seen in people from South and Central
America, the Caribbean, and the Middle East.
Someone who inherits the hemoglobin S gene from one parent and normal hemoglobin (A) from
the other parent will have sickle cell trait. People with sickle cell trait do not have the symptoms
of true sickle cell anemia.
Symptoms
Symptoms usually don't occur until after age 4 months.
Almost all patients with sickle cell anemia have painful episodes (crises), which can last from
hours to days. These crises can affect the bones of the back, the long bones, and the chest.
Some patients have one episode every few years. Others have many episodes per year. The crises
can be severe enough to require a hospital stay.
Common symptoms include:
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Attacks of abdominal pain
Bone pain
Breathlessness
Delayed growth and puberty
Fatigue
Fever
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Paleness
Rapid heart rate
Ulcers on the lower legs (in adolescents and adults)
Yellowing of the eyes and skin (jaundice)
Other symptoms include:
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Chest pain
Excessive thirst
Frequent urination
Painful and prolonged erection (priapism - occurs in 10 - 40% of men with the disease)
Poor eyesight/blindness
Strokes
Skin ulcers
Signs and tests
Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:
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Complete blood count (CBC)
Hemoglobin electrophoresis
Sickle cell test
Other tests may include:
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Bilirubin
Blood oxygen
CT scan or MRI
Peripheral smear
Serum creatinine
Serum hemoglobin
Serum potassium
Urinary casts or blood in the urine
White blood cell count
Treatment
Patients with sickle cell disease need ongoing treatment, even when they are not having a painful
crisis. They should take supplements of folic acid (essential for producing red blood cells)
because red blood cells are turned over so quickly.
The purpose of treatment is to manage and control symptoms, and to limit the frequency of
crises.
During a sickle cell crisis, you may need certain treatments. Painful episodes are treated with
pain medicines and by drinking plenty of fluids. It is important to treat the pain. Non-narcotic
medications may be effective, but some patients will need large doses of narcotics.
Hydroxyurea (Hydrea) is a drug some patients use to reduce the number of pain episodes
(including chest pain and difficulty breathing). It does not work for everyone.
Antibiotics and vaccines are given to prevent bacterial infections, which are common in children
with sickle cell disease.
Blood transfusions are used to treat a sickle cell crisis. They may also be used on a regular basis
to help prevent strokes.
Other treatments for complications may include:
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Dialysis or kidney transplant for kidney disease
Drug rehabilitation and counseling for psychological complications
Gallbladder removal (if you have gallstone disease)
Hip replacement for avascular necrosis of the hip
Irrigation or surgery for persistent, painful erections (priapism)
Surgery for eye problems
Wound care, zinc oxide, or surgery for leg ulcers
Bone marrow or stem cell transplants can cure sickle cell anemia. However, transplants have
many risks, including infection, rejection, and graft-vs-host disease. Therefore, they are currently
not an option for most patients. Also, sickle cell anemia patients are often unable to find wellmatched donors.