Diagnosis of beta thalassemia major

Children with beta thalassemia major are usually diagnosed during the first year of age. Pallor,growth retardation,abdominal swelling,irritability and jaundice appear during the infancy.

Doctors can diagnose thalassemia with blood tests,using a blood sample of the child sent to a laboratory for further analysis for a complete blood count(CBC) and special hemoglobin electrophoresis.

  • A CBC evaluate the quantity of hemoglobin and the various types of blood cells,such as red blood cells and it can reveal anemia.
    Thalassemic have fewer red blood cells in good shape and less hemoglobin than non thalassemic people.
  • Hemoglobin electrophoresis test measures the types of hemoglobin in a blood sample,and it divides the different molecules in the red blood cells,to be able to find the the abnormal form of hemoglobin.
    Thalassemic children have problems with the alpha or beta globin protein chains of hemoglobin.

A lab technician will also check the blood under a microscope to see if the red blood cells are misshapen,in fact a sign of thalassemia is abnormally shaped red blood cells.

Family genetic studies
Because thalassemia is a genetic disorder,family genetic studies (blood tests and medical records) also can help in diagnose it.

Iron in the blood
The quantity of iron in the blood is also checked to be sure if the anemia is due to thalassemia or to iron deficiency.
If the body doesn’t have a sufficient quantity of iron to make hemoglobin,then it is called Iron-deficiency anemia.

Pre natal diagnosis
The diagnosis can be done even to babies before birth,to find the the genes that cause thalassemia on cells from the placenta or a sample of amniotic fluid.