One of the greatest advantages of living in the 21st century is the unlimited access to copious amounts of free information. Today, we live in a society where we have no excuse to claim ignorance on any given topic or ignore marginalized voices. With the vast amount of information at our fingertips, it is truly a blessing that we readily have access to free knowledge. And, yet, topics that affect minority groups such as sickle cell trait (SCT) remain elusive in our pop culture.
In our social-media-crazed world, we love to worship the Influencer, lovingly doe on our followers, push hashtags for the trendiest cause(s), and promote the trendiest “cause” of the day. Yet, once the wave of attention disappears, the collective society forgets, and we lose a chance to improve the lives of our fellow humans. What’s worse, is that there are so many social issues deserving of our attention. However, if that topic is not considered “trendy enough”, it’s not likely, that topic will reach the pinnacle of the social media stratosphere.
Sickle Cell Trait (SCT) falls under this umbrella. It is a topic so deserving of our attention because it impacts millions globally. And, yet, SCT remains a topic that is underrepresented to the detriment of millions.
It is ever so important to give minority communities access to the information they need about the disease affecting their communities. There is so much stigma around rare diseases like sickle cell disease that misinformation runs rampant. The stigma around such topics prevents advocates from fully being able to engage society realistically.
Sickle cell disease is still shrouded in so much stigma and misinformation. It is my opinion that universal education is required, if we ever hope to increase EQs and IQs on SCD. Education is the only way to combat the lack of global knowledge.
I’m here to help address these gaps. To date, no one has taken the initiative to exclusively curate content about Sickle Cell Trait or Sickle Cell Disease from the single viewpoint of the patient. I believe there needs to be a repository of articles offering in-depth resources for all those who hope to learn about this neglected and forgotten disease.
Globally, the world remains blissfully ignorant of ‘what is sickle cell trait?’, or ‘the effects of sickle cell disease?’ or ‘how one inherits the illness?’ For a disease clinically discovered in 1910, it is high time that we raise proper awareness. If there is any chance of shining the spotlight on SCD, I believe now is the time. I am an advocate in the sickle cell community. As an SCD advocate, I believe we as a community must collectively work together to educate the medical world, our peers, family & friends, and society at large about sickle cell trait and sickle cell disease.
What is Sickle Cell Trait?
So, what is Sickle Cell Trait (SCT)? SCT is the carrier state of Sickle Cell Disease and is a defective or abnormal hemoglobin gene. SCT came about because of a single amino acid mutation; valine subsequently changed to glutamate, at the 6th position in the beta-chain of the hemoglobin gene.
I like to think of sickle cell trait as the parent of SCD. It can be easy to confuse the differences between the two when you’re first learning about this illness. But creating tricks, like the parent/offspring analogy, will help you remember these necessary facts.
When learning about SCT, you will often see the term written interchangeably as AS, HBAS, or SCT. A person living with SCT is called a sickle cell trait carrier or a carrier of Sickle Cell Disease.
What is a Gene?
To understand what SCT is, we first must understand genetics. For example, what is a gene? Did you know that a single gene is the basic physical unit of inheritance? Our genes pass from parents to offspring. Genes contain all the information needed for our specific traits. Our genes are often arranged, one after another, on structures called chromosomes. A chromosome contains a single long DNA molecule. Only a portion of our chromosomes corresponds to a single gene.
The fact that a gene is the physical unit of inheritance, given from parent to offspring, means we can only inherit sickle cell trait and the disease, from our parent(s). A common misconception about Sickle Cell Disease is that it is a contagious illness. Well, it’s not. Not only is the trait not contagious, but it will never develop into SCD. The notion of SCT changing into SCD is not scientifically plausible because SCT is a single defective gene that causes the formation of abnormal hemoglobin on the beta-gene allele {HbS} coupled with a single normal gene hemoglobin A. The trait is just that, a trait. Sickle Cell Disease is a genetic disorder passed down from parents to a child.
Human chromosomes are the building blocks of humanity. Our genes are like Jenga puzzle pieces. Each puzzle piece is representative of a specific gene that neatly fits together to create instructions for the human body. When abnormal gene(s) are present, such as the double inheritance of sickle cell trait, (HbSS), those abnormal gene(s),will throw the body off. In the game of Jenga, if you remove the wrong Jenga, the blocks will fall, when the structure becomes unstable. Deformed gene(s) can not properly carry out their specific instruction(s).
What is Role of the Allele?
Every person inherits two different copies of a single gene from their parents. When a person inherits SCT, their genotype is known as an AS. AS means that the normal hemoglobin A is passed to the child from one parent, and the abnormal S-hemoglobin is passed from the other. Our genes determine all of our characteristics, so let’s thank mom and dad for their genes!
The majority of human genes are the same. However, some genes do mutate and are considered abnormal. Such minuscule differences contribute to each person’s unique genotype and phenotype.
No two humans are the same. We may differ in our physical features, yet, we are all from the same species, humans. No matter the color or shade of one’s skin. Genes are responsible for what makes you, you!
An allele expresses itself as one, two, or multiple versions of a gene. Our alleles can also vary due to genetic mutations. A genetic mutation causes a change in the sequence of the DNA, altering its structure forever. Mutations also arise in the nucleotide base or with a different nucleotide base. 3 An allele can be classified as both dominant and recessive.
A dominant allele is a relationship between two versions of a gene. The dominant allele will always be expressed in the offspring when the dominant allele is present, even if only one copy is there. The dominant allele often masks other alleles, which is known as a recessive allele. For example, the eye color brown is a dominant allele, whereas the eye color blue is a recessive allele.
In the case of Sickle Cell Trait (AS), the hemoglobin S gene is a recessive allele.4 For a child to inherit Sickle Cell Disease, no matter the genotype, that child must inherit two copies of the mutated allele. One mutated allele must come from each parent for the disease to be present. Hence, for every pregnancy there’s a 25 percent chance of inheritance of both recessive genes. For this reason, the myth that it only takes one parent for a child to inherit SCD is false. One can never inherit sickle cell disease without the genes of both parents.
Human Genome Project– The story of humanity
The story of humanity. 
Through genes. 
To understand our origins.
The Human Genome Project (HGP) was an international scientific research project with the specific goal of determining all of the genes known to man. Researchers also hoped to identify genes responsible for genetic diseases and deficiencies like sickle cell disease. The goal of the Human Genome Project was:
- Optimize data analysis.
- Sequence the entire genome.
- Identify the complete human genome.
- Create the genome sequence databases and store the data.
- Take care of the legal, ethical, and social issues of the project.
Over a thirteen-year research period, scientists identified, mapped, and sequenced all of the genes in the human genome. The ambitious 2.7 billion dollar project resulted in the discovery of approximately 35,000 genes inhuman DNA. Truly, amazing.
Does SCT cause symptoms?
The carrier state of SCT means the trait is NOT the disease and can never turn into sickle cell disease. The trait itself is classified as a benign state because patients do not typically have or show any symptoms, such as a vaso-occlusive crisis or splenic sequestration (a condition where sickle cells pile up in the spleen blocking the blood vessels). As a carrier of Sickle Cell Trait, you should expect to have little to no issues. Your life expectancy will be in line with the general population. In some extreme cases, SCT can pose a risk to the person in question, and some precautions should be exercised.
Are there risk associated with SCT?
Usually, sickle cell trait is not symptomatic. However, in a few extreme situations, the carrier can present with symptoms. Symptoms do occur when the body is deprived of oxygen or put into stressful conditions; exertional sickling can happen. If you are an AS carrier, remember that you MUST stay well hydrated because your blood cells can sickle.
Many footballers, military personnel, and hikers have experienced sudden death when overexerting themselves without taking precautions such as frequent breaks or properly hydrating oneself. As an athlete with SCT, you must also be mindful of exposure. When you work out, be sure to warm up first, take as many breaks as you need, work out with a partner, and never overexert yourself when participating in challenging exercises.
Activities such as scuba diving, skydiving, or exposure to the elements like mountain climbing or high elevation, can also put a person with SCT at risk, causing their blood to sickle. Also, there is an aggressive form of non–clear cell kidney cancer that typically affects young adults and is almost exclusively those of African descent who carry the sickle cell trait, sickle cell disease, or other sickle hemoglobinopathies that can cause a rare cancer of the kidney called, renal medullary carcinoma, also known as RMC.
Please be careful, know your limits, and communicate any issues you might be experiencing in distressing situations.
Sickle Cell Trait- Exertional Sickling in Athletes
Where did Sickle Cell Trait originate from?
Sickle cell trait originated in West Africa approximately 7,300 years ago.5 The abnormal S gene also has origins in India and the Middle East. The spread of the abnormal S gene into the Americas happened because of the transatlantic slave trade. The only commonality between people in these regions is mosquitoes and Malaria. A person’s race has nothing to do with the inheritance of the trait or disease.
Malaria is the reason for the gene mutation of SCT and thus sickle cell disease. SCT is the adaptive evolution acquired by our ancestors to protect those carriers from Malaria. A cohort of studies conducted by the CDC, the Asembo Bay Cohort Project and in collaboration with the Kenya Medical Research Institute found that the sickle cell trait provides 60% protection against overall mortality. Most of this protection happens between the ages of 2-16 months of life, before the clinical onset of immunity sets in, where the transmission rate of Malaria is most intense. 6
How does one get SCT?
Globally, over 300 million people are trait carriers. The highest prevalence of SCT carriers is found in sub-Saharan Africa, accounting for approximately 30% to 40% of the population. In the United States, 1 out of 13 African American births results in the inheritance of Sickle Cell Trait 7 With every pregnancy, when one parent is a carrier, there is a 50/50 chance that the child will inherit the trait. The child will either inherit the SCT or have normal hemoglobin.
For example, if the father, Matthew, has a normal hemoglobin gene (AA) and the Mother, Mary, is a trait carrier (AS), then the child’s genotype is merely a flip of the coin. When a child inherits AS, they are now at -the risk of producing a child with sickle cell disease; if they choose a mate who is also a carrier of SCT or any other hemoglobinopathy traits.
How do I know if I am a carrier of SCT?
Those individuals living with sickle cell trait account for approximately 5% of the world’s population. Of those 300 million individuals, between 3-4 million trait carriers reside in the USA. If you are a trait carrier living in the USA, chances are you will NOT know your hemoglobinopathy status if you were born before 2006. The reason for this, is because of mandated newborn screening was not being fully adopted and implemented by all states until after May 1, 2006.8
If you or your loved one is unaware of their hemoglobinopathy status. There are several action items you can take to attain your results. The easiest thing you can do is ask your parent(s) or guardian if they know your trait status? If your parent(s) or guardian cannot provide you with that information. The next thing you can do is contact your primary care doctor and ask them for a hemoglobin electrophoresis test.
An electrophoresis test is a blood test used to measure the different types of hemoglobins that may be present in your blood. The test can also identify any other abnormal types of hemoglobin. If you do not have access to a primary care physician, you can also reach out to your local Sickle Cell Association or the American Red Cross, who can provide you with a free sickle cell screening.
Another way to get your trait status is by purchasing a home DNA kit such as 23andMe or Ancestry. The 23andMe Health + Ancestry Service, offers personal genetic DNA tests that include health predispositions, carrier status, wellness, and trait reports. Therefore, if you choose to purchase a test, you will be able to dig into your family history and yours.
We need Diverse Donors 
to Donate Blood products 
to the American Red Cross.
Learn Your Trait Status
The point is, if you want to know your status, there are ways that you can access your information. When you know your trait status, like knowing your HIV status, you and your partner can appropriately family plan and save a life by preventing the next generation from inheriting the life-debilitating disease, known as sickle cell disease. Therefore, please go and get tested! Strengthen the community.
Ask questions, investigate, and request a hemoglobin electrophoresis test and a HPLC test today!
*Please consult a healthcare provider whenever you have any medical issues, questions, or concerns. I am not liable for any outcomes you might experience. I am not a medical provider.
References
1. https://www.genome.gov/genetics-glossary/Gene
3. https://www.cdc.gov/genomics/disease/epigenetics.htm
4. https://www.yourgenome.org/facts/what-are-dominant-and-recessive-alleles
5. https://www.bbc.com/news/world-africa-43373247
6. https://www.cdc.gov/malaria/about/biology/index.html
7. https://www.ncbi.nlm.nih.gov/books/NBK537130/
