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What is sickle cell disease?

News
Feb 03, 2025
Blog, Maxor

Racial disparities in U.S. healthcare – part 1

Outline

In this blog, we will cover:

  • An overview of sickle cell disease (SCD)
  • Symptoms of SCD
  • Treatment options for SCD
  • The evolving drug pipeline for SCD

Introduction

Certain diseases disproportionately affect specific racial groups due to a combination of genetics, environment, and healthcare disparities. In the U.S., Black and African American populations experience higher rates of several serious health conditions, including cardiovascular disease, diabetes, obesity, high blood pressure, kidney disease, HIV, and sickle cell disease (SCD).

SCD is one of the most prevalent inherited blood disorders in this population. Despite its widespread impact, the disease has historically been underfunded and under-researched compared to other genetic disorders, leading to gaps in treatment and care.

An overview of SCD

Sickle cell disease is an inherited blood disorder that affects hemoglobin, the protein responsible for carrying oxygen in red blood cells. Instead of their normal round shape, red blood cells in individuals with SCD are crescent or “sickle” shaped. This abnormal shape makes the cells rigid and sticky, causing them to clump together and block blood flow, leading to severe health complications.

According to the Centers for Disease Control and Prevention (CDC):

  • Globally, an estimated 8 million people are affected by the disease.
  • Over 90% of people with SCD in the U.S. are non-Hispanic Black or African American.
  • The disease occurs in approximately 1 in every 365 Black or African American births.
  • More than 100,000 people in the U.S. live with SCD.

Symptoms of SCD

SCD can cause a range of health complications, some of which can be life-threatening. According to the Mayo Clinic, common symptoms include:

  • Anemia – A shortage of healthy red blood cells leads to fatigue and weakness.
  • Pain episodes (sickle cell crises) – Blocked blood flow can cause severe pain, which may last hours or even days.
  • Swelling in the hands and feet – Poor circulation can lead to painful swelling.
  • Frequent infections – SCD can damage the spleen, making individuals more vulnerable to infections.
  • Delayed growth and puberty – Reduced oxygen supply can slow growth and development in children.
  • Vision problems – Blocked blood flow can damage the retina, leading to vision loss.

On average, life expectancy for individuals with SCD is about 20 years shorter than the general population, highlighting the need for improved treatment options.

Treatment of SCD

Current treatments focus on managing symptoms and preventing complications. Medications and therapies available today include:

  • Hydroxyurea – A medication that reduces red blood cell sickling and lowers the frequency of pain crises.
  • Crizanlizumab-tmca – A drug that prevents sickled cells from sticking to blood vessel walls, improving circulation.
  • Blood transfusions – Used to replace sickled cells with healthy red blood cells.
  • Bone marrow and stem cell transplants – The only potential cure for SCD, though it requires a matched donor.
  • Gene therapy – Two FDA-approved gene therapies, exagamglogene autotemcel and lovotibeglogene autotemcel, offer new hope.
    • Exagamglogene autotemcel introduces a modified gene to correct sickle cell production.
    • Lovotibeglogene autotemcel alters an existing gene to improve red blood cell function.

In 2024, the drug voxelotor was withdrawn from the market after it was determined that its benefits did not outweigh the risks.

Looking ahead

The SCD drug pipeline continues to expand, with promising new therapies in development:

  • Mitapivat and etavopivat – These pyruvate kinase activators (PKAs) target red blood cell metabolism to improve function.
  • Advanced bone marrow techniques – Researchers are exploring ways to modify bone marrow cells without removing them from the body.
  • Half-matched bone marrow transplants – A technique borrowed from blood cancer treatments allows transplants from donors who share only half of a patient’s DNA, increasing donor availability.

As research advances and new therapies emerge, individuals with SCD have increasing hope for longer, healthier lives. However, addressing racial disparities in access to these treatments remains a critical challenge.

Conclusion

Sickle cell disease is a serious, life-threatening condition that predominantly affects Black and African American individuals. While treatment options have improved, there are still significant disparities in care and research funding compared to other genetic disorders. Continued investment in new treatments, equitable healthcare policies, and better patient support systems are essential to improving outcomes for those living with SCD.

This is part one of a series on racial disparities in healthcare. In future installments, we will explore inequities in treatment access across other high risk diseases, the impact of socioeconomic factors, and emerging advocacy efforts aimed at closing these healthcare gaps.

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References

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