- June 2, 2020
- Rai Cornell
- Posted in Resources
When sickle cell disease (SCD) runs in your family, the thought of passing those genes on to your children can be frightening. However, not every combination of sickle cell genes results in a serious condition. There is hope!
With a family history of SCD, a carrier screening test is more important than ever when you’re pregnant. Even if you don’t know of a family history of the disease, if you or your partner are part of the at-risk populations, a carrier screening test can bring peace of mind.
So what is SCD? What are the different types? Which populations are susceptible to SCD, and how can a carrier screening test from NTD Eurofins prepare you?
We’ll answer all your questions about the causes, symptoms, and signs of sickle cell disease, and provide you with the knowledge to help your child if they’re diagnosed with the condition.
What Is Sickle Cell Disease?
SCD is a group of inherited disorders, which means your mother or father – or both – pass the disease down to you. According to the U.S. National Library of Medicine, SCD affects hemoglobin.
Hemoglobin is the part of your red blood cells that carries oxygen to the rest of your body. With SCD, the hemoglobin molecules are sickle- or crescent-shaped, not round like unaffected cells.
The problem with abnormally shaped hemoglobin is that they break down easily, causing a lack of blood cells and ultimately resulting in anemia. Anemia occurs when your blood isn’t delivering enough oxygen.
Anemia isn’t the only complication caused by SCD. According to Mayo Clinic, because of their abnormal shape, sickle cells can also get stuck in small blood vessels and lead to organ damage from a lack of oxygen to the lungs, kidneys, spleen, and brain.
Another dangerous side effect of SCD is high blood pressure in the lungs, which can lead to heart failure later in life.
Different Types of Sickle Cell Disease
SCD is not a single disease but rather a group of disorders. In fact, there are five different types of SCD.
When a person inherits two sickle cell genes (HbSS) they are said to have sickle cell anemia, which is the most severe form of the disease. “Hb” refers to hemoglobin, and “S” refers to sickle cell.
People with HbSC inherit one sickle cell and one other kind of abnormal hemoglobin cell (“C”). Hemoglobin C can also cause anemia.
HbS Beta Thalassemia
People with HbS beta thalassemia inherit one sickle cell gene and one beta thalassemia gene. Beta thalassemia is another blood disorder that affects hemoglobin and causes anemia.
HbSD, HbSE & HbSO
People with HbSD, HbSE, and HbSO – the rarest types of SCD – have one sickle cell gene (“S”) and one abnormal hemoglobin cell (“D,” “E,” or “O”). All three can cause anemia.
Sickle Cell Trait (HbAS)
People with HbAS have one sickle cell gene and one normal hemoglobin gene. Although they don’t show any signs, they can pass SCD to their children.
Which Populations Are Susceptible to Sickle Cell Disease?
The U.S. National Library of Medicine says that SCD occurs most in families with ancestors who came from Africa, as well as people of Mediterranean, Arabian, Indian, South and Central American, and Caribbean descent.
If you or your partner are part of at least one of the above populations, consider doing a carrier screening test for SCD.
Screening Test Possibilities
NTD Eurofins tests for inherited genetic disorders like SCD with a simple blood draw. We offer multiple types of carrier screening tests, including one that screens for SCD genes, and you can even get tested before you become pregnant.
Most genetic conditions are rare, but knowledge is power, and a carrier screening test can give you the information you need to prepare for your family’s future in the event of an inherited genetic condition.
Talk to your health care provider about which of NTD Eurofins’ genetic carrier screening tests is right for you.
- Centers for Disease Control and Prevention. (2019). What Is Sickle Cell Disease? Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/sicklecell/facts.html
- MayoClinic. (2020). Sickle Cell Disease. MayoClinic. https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
- U.S. National Library of Medicine. (2020). Beta thalassemia. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/beta-thalassemia
- U.S. National Library of Medicine. (2018). Hemoglobin C disease. U.S. National Library of Medicine. https://medlineplus.gov/ency/article/000572.htm
- U.S. National Library of Medicine. (2020). Sickle cell disease. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/sickle-cell-disease
- Wajcman, H. (2011). Abnormal haemoglobins: detection & characterization. Indian Journal of Medical Research, 134(4). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237254/
The information provided represents the general opinions of NTD Eurofins and is not intended to be used as specific advice for any one individual. Individuals should always consult with a physician to obtain specific advice and to receive answers to any and all questions or concerns related to health, wellness, pregnancy, and birth.
Pursuant to applicable federal and/or state laboratory requirements, Eurofins NTD, LLC has established and verified the accuracy and precision of its testing services. Tests are developed and performance characteristics determined by Eurofins NTD, LLC. The methods and performance characteristics have been reviewed and approved by the New York State Department of Health.