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Sickle Cell Anemia

more about Sickle Cell Anemia

  • Red blood cells carry oxygen from the lungs to the body.  Hemoglobin is the molecule located in red blood cells that actually carries the oxygen.  Anemia means there are insufficient red blood cells.  Sickle Cell Anemia is a genetic disease in which an abnormal hemoglobin molecule (Hemoglobin S) instead of the normal Hemoglobin A molecule, is present.  Hemoglobin S in low oxygen conditions damages the membranes of red blood cells, which results in "sickling" of the red blood cell (i.e., they deform).  Sickled red blood cells essentially cannot carry oxygen.
  • Sickle Cell Anemia is a recessive genetic trait, in which those affected receive a gene from each parent, thereby inheriting Sickle Cell Anemia.
  • Those who carry only one gene, have Sickle Cell Trait, and tend to get symptoms only in extreme situations, such as at high altitudes.
  • 8% of African Americans are carriers of the sickle cell gene (therefore they have Sickle Cell Trait).
  • One in four hundred African Americans have Sickle Cell Anemia.

  • Yellow skin and eyes
  • Fatigue
  • Shortness of breath
  • Sores on legs that do not heal
  • Acute painful crisis -- severe pain in the bones, back, or chest

  • Examination:
    1. Spleen may be enlarged
    2. Pain in right upper abdomen (from gallstones)
    3. Ulcers on the lower legs
    4. Liver may be enlarged
  • Laboratory findings:
    1. Hemolytic anemia -- a low hemoglobin (usually 6-10 grams in every 100 milliliters of blood, compared to a normal of 13-18 grams for males, and 12-16 grams for females); a microscopic slide of a blood sample shows sickled cells, nucleated red blood cells, Howell-Jolly bodies, and target cells.
    2. White blood cell count is usually mildly elevated
    3. Elevated indirect Bilirubin because of hemolytic anemia
    4. Blood may be present in the urine
    5. Low Haptoglobin levels
    6. Hemoglobin electrophoresis shows that Hemoglobin S is present

  • There is no specific treatment for the underlying cause.  The goal of the treatment is to prevent painful crises, infections, and organ damage.
    1. Folic Acid supplementation
    2. Person to keep well hydrated (avoid Dehydration)
    3. Pneumococcal vaccine
    4. Hemophilus vaccine
  • Acute crisis:
    1. Oxygen supplementation
    2. Intravenous fluids
    3. Pain medications
    4. Exchange transfusions if severe complications occur
  • Long-term management of severe disease:

- Hydroxyurea stimulates fetal Hemoglobin production, and decreases the frequency of painful crises.

  • Spleen eventually becomes nonfunctional
  • Eyes may develop retinopathy that can lead to blindness
  • Delayed puberty
  • Strokes
  • Priapism (persistent erection)
  • Kidney damage
  • Aplastic crisis (bone marrow failure)
  • Infections with bacteria that have capsules e.g., Pneumococcus and Hemophilus

more about Sickle Cell Anemia

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