More than the Sum of Genes: Sickle Cell Disease
When a person has Sickle Cell Disease (SCD), their genes produce abnormal hemoglobin. This causes their red blood cells to become hard, sticky, and shaped like a crescent or sickle. These ‘sickled’ cells block blood flow. This can cause pain and serious health issues like infection, breathing problems, and strokes.
There are different types of SCD, and they depend on the specific genes a person has. You get SCD if you inherit two abnormal hemoglobin genes, one from each parent. But, SCD is more than a genetic condition – other things affect how serious it is
Image by FlyD
Different Types of Sickle Cell Disease
Adapted from Healthline and U. S. Centres for Disease Control and Prevention
| Type of Sickle Cell | Description |
|---|---|
| Sickle Cell Trait (Hb SA) |
- More common than SCD - One abnormal hemoglobin S (Hb S) gene - Does not usually cause health issues - Parents with sickle cell trait can have children with SCD |
| Hemoglobin SS (Hb SS) * Also known as sickle cell anemia |
- Most common - Two copies of the Hb S gene (one from each parent) - Often is described as “most severe” form of SCD, with more health issues |
| Hemoglobin SC (Hb SC) |
- Second most common - Hb S gene from one parent and Hemoglobin C (Hb C) gene from the other - Similar symptoms to people with Hb SS - Often described as less severe or “mild” |
| Hemoglobin SB+ (beta) thalassemia (HbS beta +) |
- Less common - Hb S gene from one parent - One muted beta-thalassemia hemoglobin gene from the other parent, which affects the amount of hemoglobin made and how well it works - Often causes fewer health issues - Often described as a “mild” form of SCD |
| Hemoglobin SB 0 (beta-zero) thalassemia (HbS beta-0) |
- Less common - Hb S gene from one parent - One muted beta-thalassemia hemoglobin gene from the other parent, which results in no production of normal hemoglobin - Often described as similar in severity to Hb SS |
| Hemoglobin SD (Hb SD) Hemoglobin SE (Hb SE) Hemoglobin SO (Hb SO) |
- Rarest - Hb S gene from one parent - One abnormal type of hemoglobin ("D," "E," or "O") from the other parent - Often described as “less severe” |
Language Matters: The Myth of Severity
While genes affect how severe SCD symptoms are, calling some types as “mild” or “less severe” doesn’t fully reflect what people with the disease go through. This can be silencing.
Other factors, like where someone lives and their access to healthcare, also impacts SCD symptoms. For example, in some countries, limited healthcare leads to more babies with SCD dying. When people have better access to screening and medical care it can result lower rates of illness and death.
Things like education, income, and racism, also affect health outcomes. Many people with SCD avoid medical care because of the racism, discrimination, and stigma they face in healthcare settings. This can cause serious health issues – no matter what type of SCD they have.
“I don’t compare myself to others with SCD. Everyone’s experience is different but one thing that’s the same is that SCD impacts us all and our quality of life. Even at its mildest there is still an impact”
“I have sickle cell beta thalassemia plus and would in no way consider it a minor disease 25% of the time it is totally disabling and much of the rest of the time I carry the pains with me throughout more mobile days.” ”
“Our disease is considered a bit less awful than sickle cell beta thalassemia ZERO but it is still awful.”
SCD, no matter the type, deeply affects those living with it. People with SCD and their advocates are pushing against lables that only focus on genes and don’t reflect the real impact of the disease.
Beyond Biology to Systems Change
While genes can influence SCD symptoms, calling the disease ‘mild’ or ‘less severe’ ignores the real experiences people face, including the physical, emotional, and social aspects of health and illness. Instead, we need to recognize factors like racism as well as access to education, income, and healthcare to better understand and address SCD.
Fighting stigma, improving education, and making sure people have access to quality healthcare are key aspects to reducing barriers and improving the quality of life for SCD. In the end, understanding that everyone with SCD has their own unique experience will help create a more supportive, compassionate, and effective approach.
About the Author
Vanessa Ferguson is a Health Policy & Health Equity Ph.D. candidate at York University. Through her research, Vanessa aims to unveil and challenge both new and old barriers to adequate and deserved care for Black and other racialized people living with SCD.
Related Articles
