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THALASSEMIA

General Information

DEFINITION--

    An inherited form of anemia in which red blood cells contain less hemoglobin than normal. Types are:

  • Alpha-thalassemia--Found in populations from the Chinese subcontinent (Malaysia, Indochina, Africa). It is less common than the beta type.
  • Beta-thalassemia--Found in Mediterranean area and Africa. If a person inherits one defective gene, it is called beta thalassemia minor (or trait); with two defective genes (one from each parent), it is called beta thalassemia major (or Cooley's anemia) and is a more serious disorder; a milder form also exists, beta-thalassemia intermedia.

BODY PARTS INVOLVED--Blood.

SEX OR AGE MOST AFFECTED--Both sexes; all ages.

SIGNS & SYMPTOMS--

    The minor form may produce no symptoms. When symptoms occur, they may include:

  • Fatigue.
  • Paleness.
  • Breathlessness.
  • Irregular heartbeat, especially with exertion.
  • Bloody or dark urine.
  • Jaundice (yellow skin and eyes).
  • Leg ulcers.
  • Enlarged spleen.

CAUSES--Inheritance of a defective gene that affects hemoglobin production. Hemoglobin in healthy people has two pairs of protein chains (alpha and beta); with thalassemia, one of the protein chains is reduced and causes an imbalance between the two chains in the hemoglobin produced.

RISK INCREASES WITH

  • Poor nutrition, especially a diet likely to produce other anemias.
  • Obesity.
  • Family history of thalassemia.
  • Genetic factors, including absence of the gene necessary to manufacture hemoglobin-A. The disorder first appeared in persons of Mediterranean heritage; it also affects people from the Middle East and Far East.

HOW TO PREVENT

  • Cannot be prevented at present, especially if the mother and father have thalassemia or the thalassemia genetic trait. If you have a family history of thalassemia, obtain genetic counseling before having children.
  • Prenatal screening is available.

What To Expect

DIAGNOSTIC MEASURES--

  • Medical history and exam by a doctor.
  • Laboratory blood tests and bone-marrow examinations.

APPROPRIATE HEALTH CARE

  • Doctor's treatment.
  • Hospitalization for transfusions as needed.
  • Surgery to remove the spleen.
  • Iron chelation therapy for excess iron in the blood.
  • Bone-marrow transplant.

POSSIBLE COMPLICATIONS

  • Susceptibility to infections, worsening of anemia, jaundice, leg ulcers, cholelithiasis, pathologic fractures, impaired growth rate, delayed or absent puberty, cardiac disease.
  • Repeated transfusions increase the risk of transfusion reaction.

PROBABLE OUTCOME--Varies. This condition is currently considered incurable. However, symptoms can be relieved or controlled. It usually causes death by early adulthood or middle age, depending on the severity of the symptoms. Some forms are consistent with a normal or nearly normal lifespan. Scientific research into causes and treatment continues, so there is hope for increasingly effective treatment.


How To Treat

MEDICATION--Your doctor may prescribe:

  • Antibiotics for infections.
  • Folic acid supplements.
  • Deferoxamine by injection for iron chelation therapy. Vitamin C is usually prescribed to patients on this therapy.

ACTIVITY--

  • Avoid strenuous sports activities.
  • Activity levels will depend on the disorder.

DIET--No special diet. Don't take iron supplements; they make symptoms worse. Drinking tea may help reduce the iron in the blood.


Call Your Doctor If

  • You have symptoms of anemia (fatigue, paleness, irregular heartbeat, breathlessness).
  • You want genetic counseling.
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