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SICKLE-CELL ANEMIA & SICKLE-CELL TRAIT

General Information

DEFINITION--An inherited blood disorder that causes anemia, episodes of severe pain, low resistance to infection and chronic poor health. Sickle-cell trait (also called carriers) is a benign condition and never progresses to sickle-cell anemia.

BODY PARTS INVOLVED--Bone marrow; lymph glands; spleen; liver; thymus.

SEX OR AGE MOST AFFECTED--Usually begins around 6 months of age and lasts a lifetime.

SIGNS & SYMPTOMS

  • Anemia with shortness of breath, rapid heartbeat, fatigue and jaundice.
  • Episodes of pain in joints, chest, abdomen and back.
  • Frequent infections, especially pneumonia.
  • Nerve impairment.
  • Delayed growth and development.
  • Skin ulcers, especially on the legs.

CAUSES--This disease is hereditary and occurs mostly in black people. If both parents are carriers of the defective gene, there is a 1 in 4 chance each child will have the disease. The anemia results from red blood cells that contain an abnormal type of hemoglobin called hemoglobin S. Red blood cells change from round to sickle shapes, which causes blockage in the capillaries making the blood more viscous.

RISK INCREASES WITH

Family history of sickle-cell anemia. > The following may aggravate symptoms:

    Ascending to high altitude, as in driving up a mountain or flying; pregnancy; surgery; injury. infection.

HOW TO PREVENT

  • If you have a family history of sickle-cell anemia, ask for testing. If you and your partner both have the gene, obtain genetic counseling before starting a family.
  • Tests in early pregnancy to determine if unborn child has inherited the double-dose gene (both parents are carriers).

What To Expect

DIAGNOSTIC MEASURES--

  • Medical history and exam by a doctor.
  • Laboratory blood studies. Simple screening tests are also available. They may be done at birth if there is a family history of sickle-cell anemia.
  • X-rays, MRI or CT scan (See Glossary for both) of bones and lungs.

APPROPRIATE HEALTH CARE

  • Doctor's treatment. Seek a doctor with special knowledge of this condition.
  • Treatment at home involves general health care maintenance and prompt treatment of any infection and sickle-cell crises.
  • Hospitalization may be required at times.
  • Get regular eye exams to check for eye complications.
  • Psychotherapy or counseling may be helpful.

POSSIBLE COMPLICATIONS

  • Persons with sickle-cell trait may be at risk of death while engaged in strenuous exercise.
  • Infections of lungs and bones; kidney failure; eye disease; stroke.
  • Priapism (prolonged penile erection) in men.

PROBABLE OUTCOME--Sickle-cell anemia is incurable and life expectancy is reduced. However, life span has gradually increased to over 40 years with increasingly effective treatments. People with the disorder can lead productive lives and are able to hold jobs, raise families and maintain a normal lifestyle.


How To Treat

GENERAL MEASURES--

  • Maintain immunization schedule, including a pneumonia vaccine. Promptly treat infections.
  • Practice good oral hygiene and get regular dental checkups.
  • Parents should avoid being too overly protective. Most everyday activities are tolerated without problems.
  • Wear a Medic-Alert bracelet or pendant (See Glossary).
  • See Resources for Additional Information.

MEDICATION--No medications are yet available to control this condition. For severe attacks, intravenous fluids, blood transfusions, antibiotics and pain relievers may be used. Prophylactic penicillin may be started in infancy.

ACTIVITY--

  • Avoid strenuous exercise and exposure to cold temperatures. Rest in bed during acute attacks.
  • Activity may be limited due to chronic anemia and poor muscular development.

DIET--Drink at least 8 glasses of water a day--more if you have a fever. This helps keep blood cells from collecting and blocking capillaries.


Call Your Doctor If

  • You want to know if you have the sickle-cell gene.
  • Symptoms recur after a period of remission or you develop fever or other signs of infection.
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