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THALLASEMIA

Definition:

An inherited form of anemia in which red blood cells contain more of fetal hemoglobin and less of normal hemoglobin.

Thallasemia is of two types – minor & major. Minor form only means that person is a carrier and Hb levels will not reach normal. It is the major variety, that needs long term supervision and management.

Signs & Symptons

The minor form may produce no symptoms, but 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 (rarely)
  • Enlarged spleen (rarely).

Causes

  • Destruction of abnormal blood cells in the spleen and other sites
  • Inadequate manufacture of normal amounts of hemoglobin-A

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.
    In India more commonly seen in Sindhis, Kutchis, Marwaris and muslims.

Prevention

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.

Diagnostic Measures

  • Observation of symptoms
  • Medical history and physical exam by a doctor
  • Specialised laboratory blood tests in addition to Hb levels.

Possible Complications

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 and cure.

Probable Outcomes

Spontaneous recovery. Children usually recover in 7 to 10 days. Adults take longer and are more likely to develop complications.

After recovery, a person has lifelong immunity against a recurrence of chickenpox.

After chickenpox runs its course, the virus remains dormant in the body (probably in the roots of nerves near the spinal cord).

TREATMENT

General Measures

The only treatment for thalassemia is periodic hospitalization for blood transfusions when symptoms become disabling.

 

Medication

Medicine usually is not necessary for this disorder. For minor pain, you may use non-prescription drugs such as acetaminophen.

Diet

Bed rest is not necessary. Allow quiet activity in a cool environment. A child may play outdoors in the shade during nice weather. Keep an ill child away from others until all blisters have crusted. If slightest pain in the testis, strict bed rest is to be implemented

Contact your Doctor

A diagnosed case reports

  • Fatigue
  • Paleness
  • Irregular heartbeat
  • Breathlessness