Sickle cell Disease
Sickle cell disease is a relatively common genetic disorder that IVF & Genetic testing (PGT-M) can help prevent – around one in 10 African-Americans is a carrier for this trait. Other groups can carry sickle cell trait as well, including Hispanics, Caribbean, South Americans, Central Americans, and those from certain parts of Europe, including Italy and Greece. In addition to working with patients who carry this trait, at PFC we also work with patients who have sickle cell disease. Advancements in the field of genetic testing have made it possible for carriers to avoid passing on the condition to their children.
Sickle cell disease (SCD) is an inherited blood disorder in which red blood cells may become sickle-shaped and harden. For a baby to be born with this disease, both parents have the trait or, one parent has the trait and the other parent has another abnormal hemoglobin trait. Sickle cell disease is not contagious, and there is no universal cure.
Sickle Cell trait (AS) is an inherited condition in which both hemoglobin A and S are produced in the red blood cells. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally healthy and often do not know that they have it.
What are the symptoms of sickle cell disease?
Symptoms can be different for each person with sickle cell disease. The most common symptom is pain caused by sickle cells blocking blood flow in blood vessels. When blood vessels are blocked, organs and tissue do not get oxygen, which causes pain. Having fewer red blood cells than normal causes anemia or not enough oxygen in the blood, making you feel tired and weak. You may also have symptoms of other health problems if the disease causes damage to a part of the body, such as the spleen, heart, lungs, eyes, kidneys, liver, or other organs.
How do I know if I have Sickle Cell Disease or Trait?
A simple blood test, followed by a laboratory technique called Hemoglobin Electrophoresis, will determine the type of hemoglobin you have.
Can I be a parent if I have sickle cell disease or trait?
Statistically, parents with sickle cell trait are not more likely to be infertile than the rest of the population. However, males with sickle cell disease have higher chances of sperm issues, including lower sperm counts and testicular dysfunction. For females with the condition, their ability to conceive may be reduced. Some women who do conceive may experience no health changes during pregnancy while some do face complications. Fertility treatment can make it possible to achieve pregnancy with Sickle cell disease.
- About 1 in 13 African Americans carry the sickle cell trait and many do not know they have it
- Estimated 100,000 in U.S. have SCD
- 24,000 babies born with SCD annually in the U.S.
- Average age of diagnosis: under 5 months
- 8% of African Americans are carriers
- Latinos have the second most common incidence in the U.S
Can my children inherit Sickle Cell disease?
Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color, and other physical traits. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes the person inherits from his or her parents. Like most genes, hemoglobin genes are inherited in two sets, one from each parent.
If one parent has Sickle Cell Anemia (SS disease) and the other is Normal, all of the children will have sickle cell trait.
If one parent has Sickle Cell Anemia (SS) and the other has Sickle Cell Trait (AS), there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy.
When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy.
How can IVF and genetic testing help prevent Sickle Cell Disease in my children?
If testing reveals that you have the sickle cell trait, there is a way to have a healthy baby.
Couples with the sickle cell trait can minimize the risk before pregnancy with IVF and preimplantation genetic testing. IVF involves a woman’s hormonal stimulation, followed by egg collection, ICSI fertilization with her partner’s sperm cells in a laboratory dish, and cultivation of the resulting embryos for 5 days. On day 5 or 6 a biopsy of the embryos is performed and the tissue analyzed. This is often known as Preimplantation Genetic Testing for Monogenic Disorders (PGT-M), or PGD.
This analysis is accompanied by blood samples of the couple (sometimes of family members too) which help geneticists track the chromosome that is carrying the mutation in the family. Very often, couples seeking PGT-M for sickle cell would also have their embryos analyzed for chromosomal abnormalities, this is known as PGT-A or PGS.
Once we have the results, it will be revealed which embryos have chromosome issues and are affected with sickle cell. The decision regarding which embryo to transfer will be done with the doctor and geneticist.