• Complete case history
• Physical examination
• CBC (Complete Blood Count) reveals anemia
• Hemoglobin electrophoresis
• DNA analysis
• Hemoglobin level
• Complete blood analysis
• Prenatal tests includes chorionic villus sampling (done during 11th week of pregnancy by removing a tiny piece of the placenta for evaluation) and Amniocentesis (at 16th week of pregnancy by taking sample of Fluid surrounding fetus).
Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2 years of life. People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia.
Thalassemia can be diagnosed using a blood test, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells. People who have thalassemia have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.
Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemia have problems with the alpha or beta globin protein chains of hemoglobin.
Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. These studies involve taking a family medical history and doing blood tests on family members.
If your child has thalassemia, blood tests may reveal: A low level of red blood cells, Smaller than expected red blood cells, Red blood cells that are varied in size and shape, Pale red blood cells, Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope. Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it might be.
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