Why should we test before pregnancy?
Hemoglobinopathies are genetic disorders that affect red blood cells. People with a hemoglobinopathy may have low levels of oxygen. There are two different types of hemoglobinopathies namely Sickle cell disease and thalassemia.
Dr. Sangeeta Agrawal speaks about Hb Electrophoresis Test
Sickle Cell Disease
Sickle cell disease is a common genetic disorder wherein the red blood cells have abnormal hemoglobin and a crescent or “sickle” shape.
It may cause pain, infection, stroke, and anemia (low levels of red blood cells). Sickle cell disease also can cause damage to the spleen, lungs, and kidneys.
Treatment depends on the severity of the disease. Treatments for sickle cell disease may include medications, blood transfusions, and rarely, a bone-marrow transplant.
Thalassemia
Thalassemia’s are genetic blood disorders wherein there is a change in the structure of the hemoglobin called “alpha” or “beta thereby leading to anemia. Thalassemia may be of varying degrees.
Mild forms of the disorder may not cause any symptoms, but severe forms may damage some organs, such as the bones, spleen, and heart.
Treatment of Thalassemia
Treatment depends on the severity of the anemia and may include medications and blood transfusions.
A person with sickle cell disease inherits two sickle cell genes, one from each parent. A person with thalassemia inherits changed hemoglobin or thalassemia genes.
A carrier is a person who inherits one normal gene and one abnormal gene. Carriers of sickle cell disease are said to have “sickle cell trait.”
People with sickle cell trait do not show signs of the disorder, but they could pass the gene to their children. They usually will not know that they have the disorder until they are tested.
Similarly, people who inherit mild forms of thalassemia also may not know until they are tested.
How is it detected?
Hemoglobinopathies can be detected with a blood test called hemoglobin electrophoresis. It is advisable to do this test before getting pregnant though it can be done during pregnancy as well.
If the test results are positive and show that you are a carrier then the next step is to have the partner tested. If the partner is not a carrier, then the risk of having a child with the disorder is extremely low.
In case the partner also is a carrier, then the risk of having a child with a hemoglobinopathy is 1 in 4. The risk of having a child who is a carrier is 1 in 2.
In this case, amniocentesis or chorionic villus sampling (CVS) can be done to check if the fetus is a carrier or affected. Therefore, it is advisable to know the results of your HB electrophoresis before getting pregnant.
