Sickle Cell Disease Awareness
September is Sickle Cell Awareness Month, a time dedicated to shedding light on a condition that affects millions worldwide, including more than 100,000 people in the United States alone—90% of whom are African American. People with sickle cell disease face significant health challenges, with a life expectancy that is, on average, 20 years shorter than the general population.
This article will explore the essential aspects of sickle cell disease, including what it is and the difference between sickle cell trait and sickle cell disease. I will also discuss the origins of the condition, the symptoms it presents, and the methods used for diagnosis. Understanding how to manage the condition effectively and engage in advocacy can make a significant difference in improving quality of life and driving progress in treatment and research.
What is Sickle Cell Disease?
Sickle cell disease (SCD) is a group of inherited blood disorders that affect the shape and function of red blood cells. The primary form, sickle cell anemia, is caused by a mutation in the gene that encodes hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. This genetic mutation leads to the production of abnormal hemoglobin, known as hemoglobin S (HbS). Sickle cell disease is inherited in an autosomal recessive pattern, meaning a person needs to inherit two copies of the sickle cell gene (one from each parent) to have the disease. Those with one copy of the gene are carriers (sickle cell trait) but typically do not show symptoms.
What is the Difference Between Sickle Cell Trait and Sickle Cell Disease?
SCD occurs when a person inherits two copies of the mutated gene, causing red blood cells to become sickle-shaped and leading to symptoms like pain, anemia, and serious complications. It requires ongoing medical care. Sickle cell trait, on the other hand, occurs when a person inherits only one copy of the gene. People with the trait usually don’t experience symptoms or health problems but can pass the gene to their children, potentially leading to sickle cell disease if both parents carry the trait.
Where did Sickle Cell originate?
SCD originated as a genetic adaptation to malaria. The mutation responsible for sickle cell first arose in regions where malaria is or was historically prevalent, particularly in parts of sub-Saharan Africa, the Mediterranean, the Middle East, and India.
The sickle cell mutation likely developed as a protective measure against malaria, a deadly disease transmitted by mosquitoes. People who carry one copy of the sickle cell gene sickle cell trait have some protection against malaria because the sickle-shaped red blood cells are less hospitable for the malaria parasite to thrive. As a result, those with sickle cell trait are less likely to die from malaria, which gave them a survival advantage in malaria-endemic regions.
Over time, this gene became more common in populations in these regions. However, when a person inherits two copies of the gene, they develop sickle cell disease, which can lead to severe health problems. This connection between sickle cell and malaria is an example of balanced polymorphism, where the trait persists in populations because of its protective effect against malaria, despite its harmful effects when inherited in two copies.
Migration and trade contributed to the spread of the sickle cell gene to other parts of the world.
What are the symptoms?
In sickle cell disease, red blood cells that should be round and flexible become rigid and shaped like a crescent or sickle. These abnormally shaped cells can clump together, block blood flow, and break down easily, leading to various complications such as:
- Painful episodes (sickle cell crises): Caused by blockages in blood vessels, leading to reduced oxygen flow to tissues.
- Anemia: The sickle-shaped cells break down more quickly than normal red blood cells, causing a shortage of red blood cells.
- Increased risk of infection: The spleen, which helps filter bacteria from the blood, can be damaged by sickled cells.
- Organ damage: Blockages in blood vessels can lead to damage to organs such as the liver, kidneys, lungs, and brain.
What is the treatment?
Treatments focus on managing symptoms, preventing complications, and in some cases, bone marrow or stem cell transplants can offer a potential cure. Advances in gene therapy also show promise for future treatments. I will take a deeper dive into the specific treatments, the latest research, and promising new advances in the management of sickle cell disease later in the series.
How is SCD Diagnosed?
Sickle cell disease (SCD) is typically diagnosed in newborns through a blood test called newborn screening. This test is performed within the first few days of life, usually before the baby leaves the hospital. If it is not detected at birth other tests can be performed in older patients to diagnosis SCD.
- Blood Sample Collection: A small blood sample is collected from the baby’s heel, known as a heel prick. The blood is then sent to a laboratory for testing. The blood sample is analyzed to detect whether an individual carries one or two copies of the sickle cell gene, determining if they have sickle cell trait or the disease.
- Hemoglobin Electrophoresis: The primary test used to diagnose SCD is called hemoglobin electrophoresis. This test identifies the type of hemoglobin present in the blood, specifically looking for hemoglobin S (the abnormal form associated with SCD). It can detect whether the baby has sickle cell trait (one gene for SCD) or sickle cell disease (two genes).
- DNA Analysis (Genetic Testing): A more precise test that can confirm the presence of the sickle cell gene and differentiate between sickle cell disease and trait by analyzing DNA for specific mutations.
- Confirmatory Testing: If the screening test suggests the baby may have sickle cell disease, further testing may be conducted to confirm the diagnosis.
These tests are important for early diagnosis, genetic counseling, and managing the condition.
Why is Patient Support and Advocacy Important?
Involvement in advocacy and support groups helps improve the quality of life for individuals with sickle cell disease and drives progress toward better treatments and a cure.
Importance of Support Groups:
- Emotional Support: Support groups provide a space for individuals with sickle cell disease and their families to share their experiences, reduce feelings of isolation, and offer emotional encouragement.
- Information Sharing: Members can exchange information about coping strategies, treatment options, and management techniques, helping others navigate their journey with sickle cell.
- Resource Access: Support groups often provide access to valuable resources, such as educational materials, financial assistance, and connections to healthcare professionals.
- Advocacy Opportunities: Being part of a support group can amplify voices in advocacy efforts and provide a collective strength to drive change and raise awareness.
Advocacy Involvement:
- Raise Awareness: Advocacy helps educate the public about sickle cell disease, its challenges, and the needs of those affected, leading to greater understanding and support.
- Promote Research Funding: Advocates can influence funding decisions and support research initiatives that aim to improve treatments and find a cure
- Support Policy Change: Advocates work to influence healthcare policies and legislation that affect sickle cell patients, such as insurance coverage and access to treatments.
- Community Engagement: Advocacy efforts can help build a network of support and provide a platform for patients and families to share their experiences and needs.
Learn more about Sickle Cell Disease
Sickle cell disease is a complex genetic condition that significantly impacts the lives of those affected, causing a range of symptoms and complications. Throughout this month, I will be diving into a series of posts that explore the many facets of sickle cell disease, from what it is and how it impacts the body, to the latest advancements in treatments and care. Whether you’re a patient, caregiver, or simply looking to learn more, our goal is to raise awareness, provide education, and highlight the progress being made in managing and treating this life-altering condition. In this series, I will break down the complexities of sickle cell and explore pathways to better health and an improved quality of life for those affected.
About the author
Dr. Daniel Landau is a distinguished board-certified hematologist/oncologist renowned for his exceptional contributions in the field. With an illustrious career spanning across esteemed institutions like the Orlando Health Cancer Institute and the Medical University of South Carolina, Dr. Landau’s expertise shines in both genitourinary oncology and hematology. .
Engage with Dr. Landau’s expertise and ignite your curiosity on “Ask MedOnCMD” as he invites you to explore the vast landscape of oncology with a fresh outlook.