Thalassemia

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Thalassemia is a blood disorder. It cuts down the amount of red blood cells and hemoglobin that the body can make. Low levels of red blood cells and hemoglobin can lead to anemia. Anemia can result in a low level of oxygen in the body that interferes with your normal functions.

Thalassemias fall into two main categories, based on the part of hemoglobin affected:

  • Alpha thalassemia: based on the alpha part of hemoglobin
  • Beta thalassemia: based on the beta part of hemoglobin

Hemoglobin needs four genes, two from each parent. The number of faulty genes determines the severity of your condition. Diagnosis requires tests to measure the amount of hemoglobin, iron and red blood cells in your blood.

Thalassemia Symptoms  

Silent carriers will have no symptoms. For others, symptoms most often begin within 3-6 months of birth.

Symptoms of mild or moderate anemia may include:

  • Feeling weak and tired
  • Shortness of breath
  • Lightheadedness or headaches
  • Cold hands and feet
  • Pale skin

Symptoms of severe anemia include:

  • Lack of interest in activity
  • Pale appearance
  • Poor appetite/feeding
  • Dark urine
  • Jaundice

General symptoms of thalassemia include:

  • Slow growth and delayed puberty
  • Enlarged and fragile bones, including:
    • Thickening and roughening of facial bones
    • Bones that break
    • Teeth that don't line up

Thalassemia can also lead to complications such as:

  • Increased risk of developing infections
  • Enlarged spleen
  • Heart failure
  • Liver problems

Thalassemia Treatment 

Severe forms that cause anemia may need treatment.

Blood Transfusions

Blood transfusions help provide healthy new red blood cells.

Repeated blood transfusions can lead to high levels of iron in the blood. This can damage the heart, liver, and other vital organs. Certain medications can bind to the iron and carry it out of the body through urine.

Bone Marrow Transplant

This procedure injects you with healthy stem cells from a donor's bone marrow. The new cells travel through the blood into the bone cavities. There, they can produce new normal blood cells. This can cure some people.

Splenectomy

Thalassemia can cause the spleen to enlarge. An enlarged spleen can make anemia worse. A splenectomy removes the spleen. It may help reduce the number of blood transfusions you need.

 

Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice.