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Sickle Cell Disease: Diagnosis and Treatment

Diagnosis

  • Prenatal screening can be done if the fetus is at risk for sickle cell disease.
  • At birth, screening is universally performed in all states.
  • Blood testing reveals anemia and sickle–shaped red blood cells.
  • In affected individuals, several types of diagnostic testing may be necessary throughout their lifetimes. These include ultrasounds of the head and neck to identify those at risk for stroke, routine eye examinations to check for chronic eye disorders, and chest X–rays to assess lung structure and function.

Treatment

  • Pain can be treated with analgesic medications (e.g., Tylenol, ibuprofen, and ketorolac), warm compresses, and hydration. In some cases, stronger pain medications, including narcotics (e.g., morphine), are required. In addition, complementary therapies, such as hypnosis, relaxation techniques, and biofeedback, may be helpful.
  • Infection is the most common cause of death in patients with sickle cell disease. Antibiotics are often necessary when infection occurs, which may require hospitalization for intravenous delivery. The influenza and pneumococcus vaccines should routinely be used.
  • Supplementation with folic acid should be taken in doses of 1 milligram daily. In addition, supplementation with magnesium may be helpful.
  • Blood transfusions are commonly necessary to supply properly functioning red blood cells to increase oxygen–carrying capacity. In addition, several medications (e.g., hydroxyurea and erythropoeitin) may be used to improve the oxygen–carrying capacity of red blood cells.
  • Stem cell transplantation and gene therapy are experimental, but hold promise for a cure in the near future.

 

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