If there is one question I am frequently asked, it is about sickle cell and screening.’Some parents want to know if their child has sickle cell disease, while others do not. Finding out, on the other hand, will require you to make an informed decision. Allow me to assist you in better comprehending it. Genes function in pairs. One gene is inherited from your mother and one from your father.
People who are carriers inherited one unusual hemoglobin gene from one parent. They will never have a hemoglobin disorder because they inherited one normal hemoglobin gene from the other parent. However, if a carrier has a child with another carrier, their child has a one in four (25%) chance of having a hemoglobin disorder such as sickle cell disease or thalassemia major. What are the risks to your baby if both of you are carriers?
There are three alternatives. Your baby has a one in four (25%) chance of inheriting a hemoglobin disorder such as sickle cell disease. Your baby has a 2 in 4 (50%) chance of being a carrier. Your baby has a one in four (25%) chance of being completely unaffected – neither having a condition nor being a carrier.
Being a sickle cell carrier means that you have one of the genes that cause SCD but do not have the disease. This is also referred to as the sickle cell trait. People who carry the sickle cell trait will not develop full-blown sickle cell disease, but they may have a child with the disease. Sickle cell carriers may experience complications if their bodies do not receive enough oxygen, such as during a general anesthetic. If you carry the sickle cell gene, you may be able to pass these health conditions on to your child. All pregnant women can now have a blood test to see if they have a gene. If a mother is discovered to be a carrier, a sickle cell test can be requested. If the mother is found to be a carrier, the father is offered to screen as well.
This allows you to determine whether or not your baby will be affected. This test should ideally be performed during the mother’s first semester of pregnancy, as it is critical that the test be performed early. By scheduling the test early, you and your partner will be able to learn about all of your options and make an informed decision if your child is at risk of inheriting a blood disorder.
The importance of screening is that it will help the mother/father determine if you are a carrier of a sickle cell gene and, as a result, if you are likely to pass it on to your child. Genes are the codes in our bodies that determine things like eye color and blood group. Genes function in pairs: for every gene we inherit, we receive one from our mother and one from our father. Sickle cell disease occurs only when a person inherits two unusual hemoglobin genes, one from their mother and one from their father. The test available is known as prenatal diagnosis. It will reveal whether your child inherited any genes for abnormal hemoglobin. The screening test will not harm you or your baby, but it is important to consider whether or not to have it.
The test may provide information that requires you to make additional important decisions. The test will determine whether you are a carrier or if you have the disease. The blood test results will be available within a week or less. If you are found to be a carrier of sickle cell disease, you can seek genetic counseling from a specialist nurse or midwife counselor. If tests reveal that your baby’s father is also a carrier, your baby has a 1 in 4 chance of contracting the disease. You will be offered additional tests called diagnostic tests to determine if your baby is affected. As previously stated, a diagnostic test will tell you if your baby has sickle cell disease, if your baby is a carrier, and if your baby is completely unaffected.
Diagnostic tests are classified into two types: Chorionic villus sampling (CVS) – Which is typically done between 11 and 14 weeks of pregnancy. A fine needle is used to extract a tiny sample of tissue from the placenta, which is usually inserted through the mother’s tummy. The cells extracted from the tissue can be tested for sickle cell disease. Amniocentesis is performed beginning at 15 weeks of pregnancy. To collect a small sample of the fluid surrounding the baby, a fine needle is passed through the mother’s tummy into the uterus. Some of the baby’s cells are present in the fluid and can be tested for sickle cell disease.If the test results show that your baby has sickle cell disease, you will be given an appointment with a medical professional. You’ll be able to learn more about the specific blood disorder your child has inherited and discuss your options. Certain blood disorders are more severe than others.