You may ask, now that I understand what sickle cell disease is: what next? Is there a cure? Can I have children without the SS genotype? There are a number of options for couples who understand the chance of them making babies with the genotype and are keen on avoiding it.
Prenatal diagnosis is one of these options, it refers to tests done during pregnancy in order to assess if a baby is affected by a specific disease or not. It is not restricted to sickle cell disease as several other diseases can be inherited. When these tests are done, the couple would have to make the important decisions of keeping or aborting the pregnancy if the baby is affected.
These tests include chorionic villus sampling (CVS), foetal blood sampling and amniocentesis.
CVS refers to collecting bits of the placenta using a needle that can be passed through the mother’s tummy or cervix,
amniocentesis is simply taking and testing some of the water that babies float in, and foetal blood sampling involves passing a needle into a mother’s tummy to collect blood from the umbilical cord with the guidance of an ultrasound machine. Although these tests bear the risk of miscarriage, this risk is weighed against the benefits of the procedure. After collection, the sample is sent to the laboratory and the baby’s DNA is analysed. If blood is collected, a haemoglobin test can be done instead as it is faster.
Though not readily accepted, adoption is another option for couples who do not wish to take the risk of having children with the gene. It is not fully established in Nigeria but is still an option that can be explored.
Where possible, the option of bone marrow transplantation (BMT) is offered, it is a cure. But certain requirements such as finding a donor match must be met. It is also largely reserved for people with very bad problems from SCD because of the risks associated with the procedure. Healthy stem cells (the great-grandparents of blood cells) are transferred from a matching donor to the individual where they are expected to generate new healthy blood cells. And although this procedure converts the individual’s genotype, it does not change the gene that would be passed on to one’s offspring.
Having adequate information is key especially regarding decisions that are influenced by our blood genotypes. Understanding the risks involved, the treatments available and amassing solid support will go a long way to improve quality of life. With the dynamic world we live in where research is daily making lives better, we can lend ourselves to making our world a healthier place.
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