Thalassemia is a genetic disease characterized by low production of hemoglobin and red blood cells in the body. In this condition, the body is not able to produce sufficient red blood cells as compared to the destruction. The disease is caused due to the inheritance of defective genes from the parents. The parents can be either a carrier or a thalassemic patient themselves. Its symptoms involve dark urine, jaundice, extreme weakness and tiredness, and many more. It can be diagnosed by blood test, hemoglobin test, and DNA tests.1 It is usually detected in pregnancy and in the first two years of life.2
What Is Thalassemia Test Called?
Most cases of thalassemia are diagnosed in pregnancy or soon after birth. After physical examination and evaluation of the symptoms, some tests are advised to confirm the diagnosis of the disease
Thalassemia can be diagnosed by following tests-
CBC Tests. complete blood tests give the exact measurement of hemoglobin and find out the number of different kinds of cells in the given sample of blood. It reveals the size and shape of red blood cells. Mean corpuscular volume (MCV) gives the measurement of the size of red blood cells. If there is a low value of MCV, then it is a sign of thalassemia. If iron deficiency is not present then, low MCV confirms the diagnosis of thalassemia.
Blood Smear. a thin layer of blood is stained and studies under a microscope in this test. This study shows the number and type of white blood cells, red blood cells, and platelets. In thalassemia, red blood cells are smaller in size than normal.
Iron Studies. the amount of iron is studied to rule out iron deficiency anemia as it resembles with alpha thalassemia.
Hemoglobulin Test. this test shows the type and a relative number of hemoglobin found in red blood cells. It is done by hemoglobin electrophoresis. In thalassemia, the alpha and beta globin chains of hemoglobin get disturbed and are detected by hemoglobin test. This test is also known as hemoglobinopathy. This test is used for hemoglobin screening of newborn and prenatal screening to detect thalassemia.
DNA Analysis. this test is advised to confirm mutation in the alpha and beta globin producing genes. It is used to find out carrier status and detect thalassemia if required.3, 4
Prenatal testing is advised in pregnant women who are carriers of thalassemia or their partners are the carrier. A small amount of amniotic fluid is taken from the placenta. This fluid is tested to detect the abnormalities related to mutated genes. It helps to diagnose thalassemia and find out the severity of the case.5
A moderate and severe form of thalassemia represents their symptoms of the disease usually in first two years of life. The persons who are at risk of thalassemia are advised to have routine blood tests. This will detect the defective genes that affect the production of alpha or beta globin.
Thalassemia is a genetic blood disorder which disturbs the levels of red blood cells and hemoglobin in the body. It leads to the destruction of red blood cells or hemoglobin in the blood higher than the normal.
Thalassemia carrier is an individual who has one mutated gene that codes information for the normal production of red blood cells. A thalassemic patient has two or more defective genes. The thalassemia carrier is also known as thalassemia trait or thalassemia minor that has no direct impact on the health. If both the parents are thalassemia carrier, then there is a possibility that the child born to them will have severe thalassemia.
Thalassemia is an inherited disease that causes low production of hemoglobin and red blood cells in the body. This condition is detected in pregnancy and soon after the birth through prenatal screening. Blood tests, hemoglobinopathy, iron studies and other tests discussed above confirm its diagnosis.