Thalassemia is a genetic blood disorder. In this disorder, the body does not make enough healthy RBCs, and as a result there is not enough hemoglobin. The cells fall short of oxygen and there can be increased tiredness and fatigue in such people, along with mild to severe anemia.

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How Is Thalassemia Detected?

Before starting any kind of treatment, it is very essential to establish a confirmed diagnosis of thalassemia. This is especially important because the treatment of thalassemia involves procedures like blood transfusion.

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The tests that need to be performed to detect thalassemia are-

  • A detailed medical history is taken to confirm the reason for anemia, as anemia can be caused by various other factors including nutritional deficiencies.
  • Also, correcting these factors may increase the hemoglobin significantly, to rule out the need for transfusion, which can be equally dangerous.

After proper evaluation of these factors, other tests should be performed to detect thalassemia, which may include the following:

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CBC or complete blood count is done. The CBC can tell how many red blood cells are present in the blood and how much hemoglobin do they have. It also tells the size and shape of the red blood cells, which is also known as red cell indices. This consists of MCV, which tells the size of red blood cells

  • A low count of MCV usually can be used in detecting thalassemia
  • If MCV is low and iron deficiency is not a cause of that MCV, then thalassemia is detected
  • Blood smear test is also done, which is performed by taking a thin layer of blood and treating it with a special stain
  • In thalassemia the red blood cells can be smaller in size which are called microcytic red blood cells with a low MCV
  • They can also be paler which is known as hypochromic
  • They can vary in size and shape
  • They can also have a nucleus, whereas normal RBCs do not have a nucleus
  • They can have unevenly distributed hemoglobin
  • Hemoglobin electrophoresis is the most important and first of the diagnostic tests
  • However, mutations may overlap which may result in an incorrect diagnosis or even may show a false negative
  • Hence, genetic analysis or testing is to be done in both cases-beta thalassemia and alpha thalassemia
  • Hemoglobinopathy result is used for newborn hemoglobin screening and prenatal screening especially for parents who have a high risk for hemoglobin abnormalities
  • Genetic testing by using amniotic fluid is used rarely, when a fetus is suspected to be at a higher risk of getting thalassemia
  • This is usually done when both parents are carriers, because that increases the risk of the newborn getting a more severe form of the disease.
  • Parents and siblings should also be tested.

Treatment Of Thalassemia

  • Those suffering from a mild thalassemia trait generally do not require any treatment
  • They can avail genetic counseling however, as they can pass the defected gene to their children
  • Those suffering from hemoglobin H disease or beta thalassemia intermedia may show moderate to severe symptoms and anemia
  • They can lead a normal life, with regular monitoring and occasional transfusions
  • Those suffering from beta thalassemia major may present with more severe symptoms and may need frequent blood transfusions, almost every few weeks
  • They will also need chelation therapy so that they can remove excess iron from their bodies
  • The blood transfusions will help in maintaining hemoglobin at enough levels to supply to all organs of body and prevent slow growth and organ damage

However, these frequent blood transfusions can increase iron levels in the body to toxic levels and hence, chelation therapy will be needed to remove this excess iron to prevent vital organs from getting damaged.

Bone marrow transplant is considered for treatment of beta thalassemia major

Thalassemia is a genetic blood disorder. It is not curable or preventable. However, proper treatment can reduce the symptoms and increase the longevity of those affected.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: December 24, 2018

This article does not provide medical advice. See disclaimer

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