Sickle Cell Trait
Symptoms of Sickle Cell
- Anemia - low red blood cell count
- Crises - painful episodes caused by blocked blood vessels
- Delayed growth
- Jaundice - yellowing of skin and eyes caused by liver damage
- Reduced life expectancy
- Organ damage
- Lowered immune system, frequent infections
What is Sickle Cell?
In a healthy, normal body, round flexible red blood cells use a protein called hemoglobin to transport oxygen throughout the body. Sickle cells are rigid sickle shape cells, created by a genetic blood disorder caused by a mutation that prevents hemoglobin molecules from forming properly.
Sickle cells prevent oxygen from properly flowing through the body causing the cells that make up organs to die, leading to organ damage and failure. Healthy red blood cells also do not live very long, making those afflicted anemic. Which is why this disorder is referred to as sickle cell anemia. Due to their odd shape, sickle cells also get stuck in capillaries--which is very painful and damaging.
I first became interested in learning about sickle cell when I learned that my son and husband were carriers of the sickle cell trait. Since I did not know very much about the disorder I was very afraid, but having been an HIV/AIDS activist for most of my life, I knew that fear stems from ignorance. So since then, I've been trying to understand this disorder and what it means for my husband and son to be living with it.
This Hub is made up of my research and any questions I've had about the disease. Originally I blogged about it on my personal website, but I think it will be more useful and easier to keep track of here. If you have any questions about sickle cell that you don't see here, please feel free to ask and I will find the answer.
This research has helped me a lot, so I hope that you find it useful as well. I will add to this as I come across more information.
Types of Sickle Cell Disorders
Hb SS occurs when a child receives a sickle cell trait from both parents. This is what is officially known as Sickle Cell Anemia. It is one of the most severe variations of the disorder.
This occurs when a child adopts a sickle cell trait from one parent and a Hb C trait (another type of abnormal hemoglobin) from the other parent. Those with Hb SC suffer similar symptoms as those with Hb SS, but anemia is not as severe.
Hemoglobin S with (Beta) Thalassemia
Beta Thalassemia is yet another blood disorder where red blood cells are smaller than normal due to less beta protein made. A carrier of this trait has adopted Hb S from one parent, and B+ from another. It is slightly worse than simply having Hb S, but generally carriers live normal lives.
Hemoglobin S with Beta-Zero Thalassemia
This occurs when a child adopts Hb S from one parent and B0 from the other. The B0 trait, alone, can cause anemia and bone deformities. So when paired with Hb S, it has the potential to be even more severe than Hb SS.
Sickle Cell Trait
A child has a 1 in 4 chance of receiving the sickle cell trait if both parents have it. The odds are much higher if one parent has Hb SS.
How is Sickle Cell Passed On?
Sickle Cell is Inherited
Sickle cell is passed down through genetic coding. That means it cannot be "caught" by interacting with someone who has sickle cell or by getting a blood transfusion from someone with sickle cell. The only way to get it is to be born with it.
For a child to be born with sickle cell anemia, both parents must have the trait, and even then there's still a 1 in 4 chance that a child will be born with it. For a child to be born with just the sickle cell trait, at least one parent must have it present in their genes.
Most states screen newborns for sickle cell. That is how I learned that my son had the trait.
Save A Life
In addition to Sickle Cell Anemia, there are many other rare diseases that require bone marrow transplants to save lives. YOU can help by spreading awareness and signing up to be a donor. Check out BeTheMatch.org to see if you are someone's life saving match.
How to Treat Sickle Cell
Treatment depends on the severity of the disorder in an individual. Babies and children with sickle cell anemia must take daily doses of penicillin to prevent infection and illness.
Plenty of rest, water, and avoidance of strenuous activity is advised for both carriers of the trait and those with sickle cell anemia. Folic acid (found in dark leafy greens, beans, and citric fruit) helps in the production of red blood cells. So a good daily multivitamin is a must.
Blood transfusions are common practice for those with sickle cell anemia. In severe cases, bone marrow transplants may also be necessary.
However, carriers of the trait may never experience any symptoms of the disorder nor require treatment.
Sickle Cell and Malaria
The sickle cell mutation is believed to have originated in regions that are also afflicted with malaria. The shape of the cells actually make carriers immune to malaria. This implies that the mutation was an evolutionary response to the malaria epidemic.
What is it like to live with the Sickle Cell Trait?
Fearful of my son's status, Hb SB+, I asked several doctors what I should expect from the diagnosis. None of them seemed overly concerned. They explained to me that carriers of the trait live very normal lives, some don't even realize they are carriers. Carriers of the trait with Thalassemia may be more anemic, but generally speaking, do not have problems.
The only restrictions I was informed of was high altitude mountain climbing, piloting aircraft, and space travel. So, my son won't be climbing Mt. Olympus, flying any planes, or becoming an astronaut. This made me a little sad, but I'll encourage him to be whatever else he wants to be.
I read up on these issues though, to understand why such activities would be dangerous for a person living with the trait. It is because in high altitudes, where there is less oxygen, normal blood cells begin to sickle.
I checked out the American Society of Hematology's FAQ on the Sickle Cell Trait and find this particularly useful:
Q: What health complications are associated with sickle cell trait?
A: Most people with sickle cell trait have no symptoms and will not have any health complications. Occasionally people with sickle cell trait can have painless hematuria. Under extreme conditions such as high altitude, severe dehydration, or very high intensity physical activity typically associated with high temperatures, red cells can become deformed or sickled. Complications include muscle breakdown (rhabdomyolysis), reduced blood supply to the spleen (ischemia/infarction), or increased pressure in the eye (glaucoma) following eye injuries. Finally, a very rare form of kidney cancer (renal medullary carcinoma) has been associated with sickle cell trait.
Sickle Cell and Sports
Carriers of the Sickle Cell trait should be mindful of the same things that ALL athletes need to consider.
- Maintain good hydration by drinking plenty of water
- Take breaks
- Avoid injury
- Take care in the heat and humidity
- Do not push training too hard
In-depth and useful book on understanding blood disorders. I used this for a lot of the information I cite here.
- Manual of Clinical Hematology - Google Books
Preview of "Manual of Clinical Hematology," highlighting the sections on sickle cell.
- A Brief History of Sickle Cell Disease
- Sickle Cell Anemia: Types, Symptoms, & Treatment
- How Sickle Hemoglobin Protects Against Malaria
In a study that challenges currently held views, researchers unravel the molecular mechanism whereby sickle cell hemoglobin confers a survival advantage against malaria.
- Sickle Cell and Blood Donation
Answers the question, "can sickle-cell trait carriers donate blood?"
- Hemoglobin C - Wikipedia
Definition of Hemoglobin C to help understand Hb SC
More information on Beta-thalassemia