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Sickle cell anemia is an inherited genetic disorder affecting the red blood cells. The disease is, in most cases, not curable, and required life-long medical attention. New treatments are being developed to manage the symptoms of the disease.

Sickle cell anemia is a genetic blood disorder wherein the person affected produces abnormal red blood cells containing hemoglobin S instead of hemoglobin A. When the red blood cells with hemoglobin S lose their oxygen they become distorted and adopt a crescent/sickle shape. These cells are usually rigid and sticky and may get stuck in small blood vessels, thus slowing or blocking blood flow as well as oxygen delivery to many parts of the body.

The sickle cell gene is inherited from both parents. In case a person gets the sickle cell gene from one parent, they are not affected but have the traits of sickle cell anemia. These people do not have any symptoms of the disease.

Sickle Cell Anemia is also known as hemoglobin SS disease (Hb SS) or sickle cell disease. It is usually common in people of Mediterranean or African descent.

Symptoms Of Sickle Cell Anemia

Symptoms of Sickle Cell Anemia usually do not occur until an infant is four months old. Common symptoms may include:

  • Anemia: The sickle cells are rigid and fragile and can break easily. Normal red blood cells usually die after 120 days of being produced but the sickle shaped cells die in less than 20 days. This results in the shortage of red blood cells (anemia) and cause chronic fatigue and exhaustion.
  • Crises: Crises are termed as the episodes of pain and are a major symptom of sickle cell disease. This pain develops as a result of sickle shaped red blood cells blocking the small blood vessels that reach to the chest, abdomen, joints, lower back and even bones etc. Duration and intensity of pain may vary from person to person. Some people may have one episode of pain in a year and some may have many which may require hospitalization. This crisis may be:
    • Swollen hands, feet or abdomen
    • Vision Problems ranging from poor eyesight to blindness
    • Ulcers
    • Small strokes which may result in problem in thinking, numbness, trouble walking or talking, weakness in face, arms or legs
    • Delayed growth or puberty
    • Joint pains
    • Infection (gall bladder, urinary, lung, bone etc) resulting in fever.

Sickle Cell Anemia: Diagnosis

Screening test

A blood test can easily determine if a person is affected by sickle cell disease or the sickle cell trait with the presence of hemoglobin S in red blood cells. An affected newborn is usually put under daily antibiotics treatment to avoid any infection. Prenatal diagnosis can also be done by testing the amniotic fluid for the presence of the sickle cell gene.

High risk of stroke is a serious threat to the life of patients with sickle cell anemia. The following tools are available for diagnosing the risk of a stroke:

  • TCD (Transcranial Doppler) ultrasonography: The ultrasonography measures the blood flow in the brain and may identify children who are at risk of a stroke. But even if the screening diagnosis shows a normal blood flow velocity, high risk children may still be at risk of a stroke.
  • MRI (Magnetic Resonance Imaging): It detects small blockages in blood vessels.
  • Angiography: A technique for detecting aneurysms (a bulging in blood vessel wall, which if it bursts in the brain may result in a stroke).
  • Genetic Markers: Researchers are also looking for possible genetic markers which may identify people with sickle cell disease at higher risk of strokes.
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  • 305(9):893-902.Photo courtesy of euthman via Flickr:
  • Photo courtesy of Nicolas Alejandro Street Photography via Flickr:

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