Sickle cell disease is a quite common genetic disorder. Fertility clinics works on patients who have sickle cell trait, but they also work on patients who already have sickle cell disease. It is a revolutionary achievement in the field of genetic testing that doctors are able to treat the patients with sickle cell trait, so that they do not pass on the condition to their children.
What is Sickle Cell Disease?
A change at a certain point in the beta-globin gene is responsible for sickle cell anemia. Usually, red blood cells are rounded shaped, but red blood cells of patients with these diseases can be distorted into a sickle, or shape of a crescent. Due to such a shape, the blood cells break earlier than possible, and thus lead to anemia.
How does Sickle Cell Disease affect fertility?
There is no study or proven report that says about the impact of sickle cell disease on our fertility compare to fertility possibilities of people without the disease. However, the patient with the disease themselves can see an impact of the issue on their fertility. For men with sickle cell disease, there are increased chance of sperm issues, including lower sperm counts and testicular dysfunction. On the other hand, women will have decreased ability of conceiving. Best fertility treatments can help the patients who have sickle cell anemia. It is a disease with unpredictable symptoms and problems, such as, some women may not feel any problem after conceiving, as there are no significant3 changes in their health, while others may have various complications and health issues. These complications include but not limited to chances of infection, heart enlargement, gallbladder problem, and miscarriage.
Bone marrow stem cell transplant have been utilised for the effective treatments of sickle cell anemia. However, this treatment procedure does not ensure a secure fertility journey in the future. That is why; it is suggested the patients with sickle cell anemia should consider fertility preservation beforehand, including cryopreservation of eggs, sperm. Embryos, before the transplant takes place.
Sickle Cell Disease and pregnancy consideration
Pregnant women with sickle cell anemia are prone to multiple diseases, such as anemia in the fetus, reduced growth, preterm birth, and also lower birth weight. Therefore, the patient should consult with a high-risk obstetrician to go through a safe pregnancy journey. Some patients with sickle disease are treated with Hydroxyurea. But as this may have effects on the developing fetus, therefore it is highly recommended that the patient discontinue this before attempting pregnancy.
Role of IVF and Genetic Testing preventing sickle cell anemia
Preimplementation Genetic testing and in vitro fertilization can minimise the risk before pregnancy. PGT test is required for diagnosing Monogenic Disorders (PGT-M). In order to accomplish this, the lab would need samples from both the male and female partners, to help track the chromosome that carries the mutation in the family. Detailed reports of various genetic tests would state which embryos have chromosome issues and are affected with sickle cell diseases and which embryos are not carrying the defective genes. Therefore, the couple and the doctors will be able to discuss about the implanting of the right embryo.
