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Thalassemia Symptoms & Diagnosis


Symptoms most often begin within 3-6 months of birth. Symptoms may include:

  • Anemia, which may be mild, moderate, or severe
  • Jaundice
  • Enlarged spleen
  • Fatigue (tiredness)
  • Listlessness
  • Reduced appetite
  • Enlarged and fragile bones, including:
    • Thickening and roughening of facial bones
    • Bones that break easily
    • Teeth that don't line up properly
  • Growth problems
  • Increased susceptibility to infection
  • Skin paler than usual
  • Hormone problems such as:
    • Delayed or absent puberty
    • Diabetes
    • Thyroid problems
  • Heart failure
  • Shortness of breath
  • Liver problems
  • Gallstones

Alpha Thalassemia

This form usually causes milder forms of the disease. It has with varying degrees of anemia.

Beta Thalassemia

This form can be asymptomatic or be a mild form of disease. The mild form is known as thalassemia intermedia. This form rarely needs extensive medical care.

Beta Thalassemia Major (Cooley's Anemia)

This version usually has symptoms within the first two years of life. Children are pale and listless. They often have poor appetites. They grow slowly and often develop jaundice (yellowing of skin). It is a serious disease. It requires regular blood transfusions and extensive medical care.

Without treatment, the spleen, liver, and heart soon become very enlarged. Bones become thin and brittle. Abnormal deposits of iron in body organs can lead to organ failure. This is called secondary hemochromatosis . It most often affects the heart, liver, and pancreas. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.


The doctor will ask about your symptoms and medical history. A physical exam will be done. Blood tests may include:

  • Complete blood count—a count of the different types of blood cells
  • Blood smear
  • Hemoglobin electrophoresis
  • Quantitative hemoglobin analysis
  • Iron levels

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition. Copyright © 2022 EBSCO Publishing All rights reserved.

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