The hemoglobin protein responsible for carrying oxygen in red blood cells is abnormally produced in thalassemia, a group of inherited blood disorders. In this article, we will provide a straightforward overview of thalassemia's causes, symptoms, diagnosis, treatment, and prevention.
Causes:
Genetic mutations can lead to reduced or absent synthesis of one or more globin chains, resulting in abnormal hemoglobin production and impaired red blood cell function in people with thalassemia.
Symptoms:
Thalassemia symptoms vary depending on severity and may include:
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Inadequate oxygen delivery to tissues causes fatigue.
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Jaundiced or pale skin can be caused by reduced red blood cell production.
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Breathing difficulties, especially during physical activity.
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A weakness is a lack of physical strength or stamina.
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A child with severe thalassemia may experience delayed growth or development.
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Symptoms of severe thalassemia can include bone abnormalities and skeletal changes.
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Increased red blood cell breakdown may cause the spleen to become enlarged.
Diagnosis:
The diagnosis of thalassemia typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. Diagnostic procedures may include:
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The complete blood count (CBC) and hemoglobin electrophoresis are blood tests that can identify abnormalities in red blood cell counts, hemoglobin levels, and hemoglobin types.
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A DNA analysis can identify specific genetic mutations associated with thalassemia.
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A family history of thalassemia or other genetic blood disorders can be helpful in assessing the risk of inheritance.
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Tests during pregnancy, such as chorionic villus sampling or amniocentesis, can detect thalassemia in the fetus.
Treatment:
The aim of treatment for thalassemia is to alleviate symptoms, manage complications, and improve quality of life. Treatment options include:
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Transfusions of blood can help maintain hemoglobin levels and alleviate anemia symptoms.
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Excess iron in the body, which accumulates from frequent blood transfusions, can be removed by medications such as deferoxamine and deferasirox.
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Supplementation with folic acid can support red blood cell production and prevent complications associated with thalassemia.
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In severe cases of thalassemia, a bone marrow transplant may be considered as a potential cure.
Prevention:
Genetic counseling and testing are essential to determining the risk of inheritance and to make informed decisions about family planning. Additional preventive measures may include:
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Individuals with a family history of thalassemia or those from high-risk ethnic populations can be tested for thalassemia traits in order to prevent future transmission.
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Testing during pregnancy can identify fetuses with thalassemia and guide treatment decisions during pregnancy.
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Providing information about thalassemia, its inheritance patterns, and available testing and treatment options can empower individuals and families to make informed decisions.
