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Tests for Thalassemia

Thalassemia is an inherited (genetic) blood disorder. In thalassemia, according to Medline Plus, there is an abnormal form of hemoglobin, a chemical found in red blood cells that carries oxygen. This abnormal form of this chemical leads to the destruction of red blood cells and hence to anemia (too few healthy red blood cells). Many different tests can show evidence of thalassemia.

  1. Prenatal Screening

    • Because thalassemia is an inherited disorder, it can be detected even before a child is born. This may be accomplished through three different tests: chorionic villus sampling to test the placenta during the 11th week of pregnancy, amniocentesis to test the amniotic fluid around the fetus during the 16th week of pregnancy or fetal blood sampling (blood taken from the fetus or the umbilical cord) during the 18th week of pregnancy, according to the Mayo Clinic.

      In order to reduce the risk of a child having thalassemia, the Mayo Clinic reports that a woman's eggs can be fertilized outside the womb, tested for thalassemia, and then a fertilized egg that tests negative for thalassemia can be implanted.

    Physical Exam

    • Feeling for a swollen spleen can be one indicator of thalassemia, according to Medline Plus.

    Microscopy

    • When the red blood cells of a person with thalassemia are looked at under a microscope, they appear irregular. The Mayo Clinic and Medline Plus report that microscopic tests may show red blood cells of various shapes which are small, pale and which may look like bull's-eyes because of the abnormal hemoglobin.

    Genetic Testing

    • A genetic test (mutational analysis), performed on blood, can show whether a person is carrying the gene that causes thalassemia, according to the Mayo Clinic.

    Other Tests

    • Other blood tests may show signs of thalassemia. Blood tests might check for a low red blood cell count (anemia). This can be accomplished through complete blood count (CBC) test, while hemoglobin electrophoresis can show the abnormal hemoglobin, according to Medline Plus.

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