THALASSEMIA

Description

  1. inherited blood disorder in which the body makes an abnormal form of hemoglobin
  2. two main forms of thalassemia are alpha-thalassemia and beta-thalassemia

Symptoms

  1. Fatigue
  2. Weakness
  3. Pale appearance
  4. Yellow discoloration of skin (jaundice)
  5. Facial bone deformities
  6. Slow growth
  7. Abdominal swelling
  8. Dark urine
  9. frequent infections

Causes

mutation in one of the genes involved in hemoglobin production
Alpha-thalassemia

  • One mutated gene, you’ll have no signs or symptoms of thalassemia.
  • Two mutated genes, your thalassemia signs and symptoms will be mild.
  • Three mutated genes, your signs and symptoms will be moderate to severe
  • Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis

Beta-thalassemia

  • One mutated gene, you’ll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.
  • Two mutated genes, your signs and symptoms will be moderate to severe
  • This condition is called beta-thalassemia major, which is also known as Cooley’s anemia

Risk Factors

people of:
around the Mediterranean – including Italy, Greece, and Cyprus
India, Pakistan and Bangladesh
the Middle East
China and Southeast Asia
family history of thalassemia

Diagnostic Tests

  • blood tests.
  • Prenatal testing:
  • Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
  • Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.
  • assisted reproductive technology that combines pre-implantation genetic diagnosis

Treatments

  • blood transfusions
  • a bone marrow transplant (BMT)
  • medications and supplements
  • possible surgery to remove the spleen or gallbladder
  • remove excess iron
  • chelation therapy

Medications

  • desferrioxamine (DFO) – taken using a pump that slowly feeds the medicine through a needle into the skin (infusion) over 8-12 hours, five or six times a week
  • deferiprone (DFP) – taken as a tablet or liquid three times a day; it’s sometimes used alongside DFO to reduce the number of infusions you need
  • deferasirox (DFX) – taken once a day as a tablet that you dissolve in a drink

Lifestyle Management

  • avoid excess iron
  • healthy diet
  • avoid infections
  • avoid smoking and drinking excessive amounts of alcohol
  • exercise regularly