Thalassemia

Overview – Thalassemia is an inherited disorder in which the body makes an abnormal form or an inadequate amount of hemoglobin.

There is reduced production of the alpha or beta chains used for assembly of the hemoglobin molecule because of the mutations in the DNA of the cells that make hemoglobin. The reduced production of the alpha chain is called alpha-thalassemia and reduced production of the beta chain is called beta-thalassemia.

 

Symptoms –

  • Pale skin
  • Fatigue
  • Dark urine
  • Swelling

 

Complications of thalassemia –

  • There is an iron overload in people with thalassemia, either from the disease or from frequent blood transfusions.
  • Increased risk of infections.
  • Bones become thin and brittle because of bone marrow expansion.
  • Congestive heart failure and abnormal heart rhythms.
  • Enlarged spleen, because spleen has to work harder than normal.

 

Diagnosis of thalassemia –

  • Initial evaluation starts with a clinical examination.
  • Laboratory testing includes a complete blood count (CBC), a review of the blood smear, and iron studies.
  • Hemoglobin analysis and/or genetic testing is required to confirm the diagnosis of thalassemia.
  • Tests used to diagnose thalassemia in an unborn baby are chorionic villus sampling (procedure wherein there is a removal of a tiny piece of the placenta) amniocentesis (a test that involves examining the sample of fluid that surrounds the fetus)

 

Lifestyle management of Thalassemia –

  • Avoid excess iron as indicated by your doctor.
  • Folic acid supplementation as indicated by your doctor.
  • Take precautions to avoid infections like washing your hands frequently, avoid being around sick people.
  • Your doctor will assess your immunization status. People with thalassemia will need an annual flu shot, vaccines to prevent meningitis, pneumonia, and hepatitis B.
  • If you are planning pregnancy and you or your partner have a family history of thalassemia talk to your doctor about preconception genetic testing and counseling.

 

Medical management of Thalassemia –

  • Management of Thalassemia involves the management of anemia and management of disease severity.

 

Management of anemia –

  • Chronic transfusions are used to maintain the hemoglobin at a level that reduces symptoms of anemia.
  • Folic acid supplementation.
  • Assessing iron stores and initiation of chelation if required.

 

Management of disease severity –

  • Pain management.
  • Routine evaluation of iron stores, complete blood counts, MRI to look for a cardiac status, liver function tests, kidney function tests, thyroid function tests, and bone mineral test. These complications are managed based on the results of the tests.

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