Sickle Cell Disease and Genetics: Understanding the Cause and Effects

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As a progressive, unpredictable disease, sickle cell is a genetic condition that affects everyone differently, which can make it difficult to understand. Simply learning more about how the body works can help explain the cause of sickle cell. And with a better understanding of how this disease works and how genetics are involved, you can make informed decisions with your doctor about how to navigate treatment.
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Genetics 101: Cells, DNA, Proteins, and Your Sickle Cell

As the name implies, sickle cell disease involves your cells. Each person has trillions of cells in their body, all working together to perform functions that keep us alive. Within each cell is DNA, the molecule that contains the genetic information for our cells, including genes. Genes provide the instructions for your cells. They help make the proteins that keep us healthy by powering muscles, attacking invading bacteria, or delivering oxygen throughout the body. Since each cell in your body relies on thousands of proteins to work properly in order for the cells to function correctly, your genes are the blueprint, or instruction manual, for your body. When there’s a mutation (or change) in a gene, the instructions can cause a cell or protein to not function properly and potentially cause disease—such as sickle cell.

 

Check out the video to learn more about how genes and proteins impact the symptoms and complications of sickle cell.

What Causes Sickle Cell?

There are many different types of cells, but with sickle cell disease it’s the red blood cells, the most common type of cell in your blood, that are affected. These cells are responsible for delivering oxygen throughout the body, which fuels your organs by giving them the energy they need to function. The protein within these cells that performs this function is called hemoglobin, which is made up of beta-globin proteins and alpha-globin proteins. In order for normal adult hemoglobin (HbA) to work properly, there must be a balance of functioning beta-globin and alpha-globin. The HBB gene provides the instructions for these proteins within hemoglobin, and a mutation in that specific gene affects the instructions, causing your body to produce an abnormal form of beta-globin, such as hemoglobin sickle (HbS), which results in a person having sickle cell disease or carrying the sickle cell trait.

 

normal adult hemoglobin vs sickle hemoglobin

Managing the Effects of Sickle Cell

Since sickle cell disease affects everyone differently, it’s important to develop a comprehensive care plan that works for you and your healthcare team. This plan should aim to monitor symptoms, address chronic complications, and manage your overall health. It’s also important to build a healthcare team that includes specialists from different areas who can make your care plan work for you. This team should include your primary care doctor but can also include a hematologist (who specializes in diseases of the blood), a genetic counselor (who can help with family planning), and a community health worker (who may be able to assist you with education and day-to-day monitoring by working with local hospitals), among others.

 

Pain, fatigue, and other unpredictable symptoms of sickle cell can affect many different aspects of your life. The daily tasks of family life, work, and/or school, as well as future plans, can all be impacted by symptoms and complications, whether they’re sudden (acute) or ongoing (chronic). Knowing how to manage these symptoms and complications can help you or your loved ones better navigate sickle cell care.

Be The Spark for Sickle Cell Care

Progress continues to be made in the treatment of sickle cell disease, but current options mainly help relieve symptoms and require lifelong use. These treatment options include oral medications and infusions, blood transfusions, and, for a limited number of patients, a hematopoietic stem cell transplant (which can lead to a cure; however, they are mostly limited to people who are under the age of 18 and have a matched-related donor available).

 

There are also developing therapies now being explored to address unmet needs in the management and treatment of sickle cell. One therapy approach being researched is gene therapy,* which is designed to treat sickle cell at the genetic level with the goal of changing the course of the disease.

 

Taking the time to educate yourself on the genetics of sickle cell is an important step in managing sickle cell—and remember, you’re not alone. Beyond your loved ones and care team, there is an entire sickle cell community, including advocacy organizations, who are here to help. For more information, visit SparkSickleCellChange.com, a website developed by bluebird bio, to stay proactive in sickle cell care and planning for the future.

 

*Gene therapies for sickle cell are investigational and not FDA approved. Safety and efficacy have not been established.

 

 

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