Many individuals carry defective genes that could be passed on to their offspring. Genetic counselors work with individuals to determine if they carry these genes. If you do, we will help you recognize the risks associated with passing on these genes to your offspring. You currently have a child with sickle cell disease. You are three months pregnant and need to consider that this child also will have the disease. Per your records, neither of you suffer from sickle cell disease. However, both of you must carry the defective gene.
The disease requires both parents to pass on the defective gene. Therefore, the genotype of the parents is Ss. You both carry a defective gene, denoted by the lower case s. You both carry a normal gene, denoted by the capital S. Both of you have sickle cell trait, not the disease.
Sickle cell disease can be diagnosed in utero through the following tests: an amniocentesis or through a placenta tissue test. Both carry some risk to the fetus, and you should discuss this thoroughly.
There is a twenty-five percent chance that this child will have the disease. The newborn must inherit the defective gene from both of you in order to develop the disease.
This disease is common in the African-American community. It is believed that Africans who carried the trait for sickle cell were more likely to survive malaria, a common cause of death in Africans. Therefore, the defective gene was more likely to be passed down.
The mutation in the hemoglobin molecule results in a defective shape of the molecule. Rather than being convex in shape, the hemoglobin will cause the red blood cell to look like a sickle. As a result, these deformed cells cannot carry oxygen effectively. They are also more likely to become trapped in tissues, resulting in pain (National Institutes of Health, 2017).