Thalassemia diagnosis

Diagnose thalassemias mainly use blood tests, including a complete blood count (CBC) and hemoglobin electrophoresis. It is made from microscopic examination of the blood, which shows many small, pale red blood cells, and reduced levels of adult hemoglobin.

Complete Blood Count (CBC). The CBC is a snapshot of the cells and fluid in your bloodstream. It provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin in their blood than normal. People who have alpha or beta thalassemia trait may have smaller than normal red blood cells.

hemoglobin electrophoresis. It tests measures the type and relative amounts of hemoglobin present in the red blood cells. Hemoglobin A, composed of both alpha and beta globin, is the normal type of hemoglobin found in adults. A greater percentage of Hb A2 and/or F is usually seen in beta thalassemia trait. Hb H may be seen in alpha thalassemia due to Hb H disease.

DNA analysis. This test is used to investigate deletions and mutations in the alpha and beta globin producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in other family members. DNA testing is not routinely done but can be used to help diagnose thalassemia and to determine carrier status.

Thalassemia major is usually diagnosed in early childhood, when there are signs and symptoms, such as severe anemia. People with milder forms of thalassemia may receive a diagnosis after a routine blood test shows that they have anemia. Doctors usually suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for the condition. Doctors also do tests on the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. When the body doesn't have enough iron to make hemoglobin, Iron-deficiency anemia occurs. When mistake with the alpha or the beta globin chain of hemoglobin, thalassemia occurs.

Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is. Chorionic villus sampling (CVS) can be offered as early as 10 weeks of pregnancy and involves removing a sample of the placenta made by the baby and testing the cells. CVS carries a risk of causing a miscarriage that is between 0.5%–1%. Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the baby. Fetal blood sampling. This test can be performed after 18 weeks of gestation and involves taking blood from the fetus or the blood vessels in the umbilical cord using an ultrasound-guided needle.