Sickle Cell Disease (SCD) is a genetic condition characterized by its impact on red blood cells and the pain/complications that come from the production of “sickled” cells. Healthy, red blood cells are round and flow easily through blood vessels to deliver oxygen throughout the body. However, a lack of hemoglobin (caused by the inheritance of Hemoglobin S rather than Hemoglobin A) can result in many of these blood cells coming out malformed and affecting their ability to carry vital nutrients throughout the body. These cells are crescent-shaped and resemble tiny farming sickles, giving the disease its name.
As always, consult your physician if you have questions about your particular case and experience.
Who Is At Risk for Sickle Cell Disease?
Originating in Africa as a defense against malaria, the Sickle Cell trait mutated over time, resulting in Sickle Cell Disease. Now, in America, both the trait and disease mostly affect the African American community. It is estimated that 100,000 Americans are currently living with Sickle Cell, with the disease occurring in about 1 in every 365 African American births. The Hispanic community is also impacted, with 1 in every 16,300 births affected.
Sickle Cell Disease Complications
Since sickled cells have problems flowing throughout the body, patients with SCD are at a constant shortage of red blood cells. The shortage affects the body’s ability to get oxygen efficiently to all vital organs, causing severe damage. SCD symptoms typically show up within the first year of life and include:
- Severe Pain and Pain Crises
- Lowered Immune System
- Vision Loss
- Blood Clots
- Acute Chest Syndrome
- Aplastic Crisis
- Early Joint Issues
Screening For Sickle Cell Disease
If you are pregnant or planning to get pregnant, Non-Invasive Prenatal Testing (NIPT) can give you an accurate picture of the genetic health of your developing baby, including testing for Sickle Cell Disease. NIPT can provide you with one option for thorough genetic information to help you make informed decisions about your child’s future.
Inheritance Of Sickle Cell Disease
Because Sickle Cell Anemia is a recessive condition, both parents must have either the trait or disease in order for their child to inherit the two copies of the hemoglobin gene needed to cause the disease. This means that, when the trait is only present in one parent, children can be born with or without the trait but never the disease. If one parent has the disease and the other parent has nothing, all children will be born with the Sickle Cell trait.
If two parents both have the trait, their children have a 50% chance of inheriting it, a 25% chance of being born with the disease, and a 25% chance of not getting either one. If one parent has the trait and the other has the disease, the chances of passing on the trait or the disease both increase to 50%. Finally, if both parents have Sickle Cell Disease, there is a 100% chance that their children will inherit the disease as well.
Treatment For Sickle Cell Disease
Sickle Cell Disease is not a fatal condition, but patients can die from severe complications of their illness. Medications like Hydroxyurea (a hemoglobin-raising medication that reduces the production of sickled cells) are used to maintain the condition. Because SCD pain crises (extended periods of localized or full-body pain) are the number one identifying symptom, most Sickle Cell patients are also regularly prescribed strong painkillers. There are few known cures to Sickle Cell, and the ones that exist are quite risky and expensive. Bone marrow transplants, stem cell transplants, and gene therapy are all possible cures. But, because each can have potentially fatal side effects and complications (like transplant rejection or difficulties finding a matching donor), these cures are only considered for extreme cases.
Sickle Cell Disease is a regularly occurring condition that is carried by many different people. With ongoing research, sickle cell treatments are evolving and providing hope for patients worldwide.