Sickle cell disease

Samantha Scetta – Editor-in-Chief

Blood: the substance that courses seamlessly through all of our vessels, the intricately complicated matter that we depend on every second of our lives and what we sometimes forget exists until we scrape our knees or visit a donation center.  

Sickle Cells, Photo courtesy of MicroscopyU

Like all parts of our human bodies, there are a plethora of pathologies that can affect blood, specifically red blood cells. Sickle cell disease (SCD) is one of these pathologies, a hereditary blood disorder affecting approximately 100,000 Americans and millions of people around the world.

According to the Centers for Disease Control (CDC), Sickle cell disease is an inherited disease that is prominent amongst individuals whose ancestors came from sub-Saharan Africa, Mediterranean countries, Spanish-speaking regions in the Western Hemisphere, India and Saudi Arabia. In the United States, all newborns are required to be screened for sickle cell disease directly after birth, as this is a hereditary disease passed on from parent to child. People born with SCD have inherited a sickle hemoglobin gene from each parent, and can pass the trait onto their children. SCD is a disease that directly affects the shape of red blood cells.

Healthy and normal red blood cells are normally shaped like discs, but red blood cells of those with SCD are shaped like a sickle, or a crescent moon. The misshapen red blood cell discs cause a multitude of health problems for those that are born with SCD.

Hemoglobin is the protein contained within red blood cells that carries oxygen throughout your body in a smooth and natural way when your red blood cells are typical. In those affected by SCD, the hemoglobin protein clumps together and causes red blood cells to be misshapen as a sickle.

The result of the “sticky” hemoglobin in red blood cells is blood not being able to get to organs in the body that need blood (all of them), leading to debilitating pain and anemia along with various ailments such as an increased risk of bacterial infections and stroke.

SCD occurs at the time of conception, so people with SCD are not contagious and will not lose their sickle cell genes over the course of their lifetime. The disease can be maintained and controlled, but the only known cure is a bone marrow transplant. Bone marrow transplant is not a common and widely used procedure, and does not come without risk of toxicity.  

Dr. Charles Abrams, spokesman for the American Society of Hematology says that “In theory, if you could give this to everyone, you could cure everyone of the disease. And if there were no toxicity, we probably would.” According to Dr. Abrams, there are new treatments “in the pipeline,” however bone marrow transplant is the only current cure for SCD.

 

As denoted by congress, September is labeled as National Sickle Cell Awareness month to encourage doctors, scientists and students to focus research on treatment for sickle cell disease

To learn more about what you can do for research please visit the National Heart, Lung and Blood institute’s website.