A Multidimensional View on Sickle Cell Disease

By Kyle Phong

Published 7:14 PM EST, Sat April 17, 2021

Introduction

Sickle cell disease (SCD), or sickle cell anemia, is a common health condition that affects about 20 million people worldwide. Although this disease originates from mutations within our genes, there are several influences, such as psychological, environmental, and biological, that affect each person’s life expectancy and overall experience. Recent research emphasizes the significance of understanding these influences in order to better treat SCD and all other hereditary diseases.

What is Sickle Cell Disease?

SCD is when red blood cells form a curved, crescent shape. As shown in the diagram below, a healthy red blood cell is shaped like a disc. Due to their deformed shape, these fragile sickle cells die quickly. Red blood cells die faster than new ones can be created, resulting in a low red blood cell count. Additionally, sickle cells often clog blood vessels because of their irregular shape. This may completely block or slow the flow of blood and oxygen to various parts of the body.

Causes: SCD is a hereditary disease that is passed down from parents that both must have the sickle cell trait. Typically, having this trait is not harmful, but it can be passed onto children. As shown in the graphic below, there is a 25% chance of having sickle cell disease if both parents have the sickle cell trait.

Symptoms: SCD can cause a variety of problems ranging from chronic pain to stroke. Due to the fact that red blood cells play an important role throughout our body, symptoms of SCD can be seen anywhere. Some early signs of SCD include jaundice, when our skin and eyes become yellow, as well as swelling in the hands and feet.

Treatments: Currently, a blood and bone marrow transfusion is the only known cure for SCD. However, only specific individuals are able to receive this treatment. These transplants are mainly done for children since they have the highest chance for success. Additionally, a relative is needed to be a donor in order to be a good genetic match.

However, there are several medicines used today to treat SCD without curing it. For example, Voxelotor is a newly approved medicine for ages 12 and up. It improves blood flow by preventing red blood cells from forming a sickle shape.

Methods

It was unsurprising for researchers to see that industrial countries with access to greater healthcare were able to extend the typical lifespan of someone with SCD. There are seven domains of influence that all play large roles in our experience with SCD. These domains include environmental, biological, sociocultural, structural, psychological, clinical, and behavioral.

This Identity Networks, Genome, and Affect as Modulators of Health (INGAM) model displays a variety of SCD outcomes and factors ranging from drug addiction to anxiety. There is often an emphasis on the biological and clinical domains of influence when dealing with SCD, but this disregards SCD’s multidimensional nature. In order to properly treat SCD complications, one must take all factors into consideration.

Conclusion

International health organizations, such as the WHO, should encourage countries to implement more appropriate policies for SCD. Some scientists believe that we are on the brink of discovering a molecular cure for SCD through the use of CRISPR. However, it is unlikely for all countries to have immediate access to a newfound cure for SCD. Therefore, it is crucial to develop new methods to reduce complications in the millions of people with SCD around the world. Additionally, multifactorial diseases such as cystic fibrosis are greatly impacted both by genetic and environmental factors. Rather than using a linear approach, we must consider that there are often many factors working in conjunction that result in SCD. Using this multifaceted model, we can revolutionize the next steps in treating SCD as well as other complex diseases and ultimately improve the quality of life worldwide.

Kyle Phong, Youth Medical Journal 2021