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Sickle Cell Disease

more about Sickle Cell Disease

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 cells (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 sickle cell gene from each parent, giving that person sickle cell anemia (those who carrying only one gene, have sickle cell trait, and tend to only get symptoms in extreme situations such as at high altitudes).  Eight percent of African Americans are carriers of the sickle cell gene (therefore they have sickle cell trait).  One in 400 African Americans has sickle cell anemia.

  • Symptoms are minimal before 4 months of age and usually begin about 1 year of age.
  • Yellow skin; whites of the eyes are yellow
  • Fatigue
  • Shortness of breath
  • Sores on legs that do not heal
  • Painful swelling of the hands and feet
  • Acute painful crisis -- severe pain in the bones, back, or chest

  • It is usually diagnosed by neonatal screening.
  • 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 of hemoglobin); slide 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
    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.
  • Folic acid supplementation
  • Person to keep well-hydrated (avoid Dehydration)
  • Pneumococcal vaccine
  • Haemophilus vaccine
    Acute crisis:
  • Oxygen supplementation
  • Intravenous fluids
  • Pain medications
  • 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 Haemophilus

  • If your child is younger than 12 months of age and has a high fever (> 102 degrees Fahrenheit or 39.4 degrees Celsius), toxic appearance, Dehydration , abnormal chest X-ray, breathing difficulties, consciousness changes, stiff neck, enlarged spleen, severe abdominal pain, then he/she should be hospitalized.  If allowed to go untreated, your child could develop any number of complications (see above) serious enough to be life-threatening.

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