Diagnosed with a condition like sickle cell disease can be a life-altering event. It is hard to know what to do and where to turn. Thankfully, just because you have this diagnosis doesn’t mean all is lost. Once you understand the disease and its symptoms, it is easier to figure out what to do to cope with it and what treatments are available to help deal with it. No one should have to deal with a disease like this all alone.
Here we will discuss sickle cell disease, how to identify if you have it, the types of people most susceptible to it, and what treatment options are available to help deal with it. We will also cover how someone gets the disease in the first place and what the likelihood of getting it is based on a range of factors such as genetics, gender, race, etc.
What is sickle cell disease?
Sickle cell disease (SCD), defined by the CDC, is a collection of inherited red blood cell disorders affecting thousands of people yearly.
Several common types of the disease and a few rare forms of disease make treatment more complicated.
The disease affects people’s red blood cells due to an abnormality in the cell’s hemoglobin. Hemoglobin is the substance responsible for how much oxygen a cell can carry. The abnormality with the hemoglobin changes the shape of the cell and causes it to become sticky. Instead of being round, the cell turns to an almost crescent or sickle shape, hence the name sickle cell disease.
Without being able to deliver enough oxygen to the other parts of the body, the disease can cause many severe health complications.
Additionally, sickle-shaped cells die very quickly compared to normal cells, which causes a shortage of red blood cells throughout the body. The c-shaped cells can also get stuck in smaller blood vessels, which can cause pain and other symptoms like heart problems and stroke.
Types of sickle cell disease
Here is a brief description of some of the more common types of sickle cell disease and their potential side effects
HbSS (sickle cell anemia)
Sickle cell anemia is the most severe form of the disease, where the sickle-shaped cells become hard and rigid. This type of sickle cell can cause various complications, including stroke, acute chest syndrome, pain, swelling, vision problems, and slowed developmental growth (puberty).
There is also a risk for severe complications such as pulmonary hypertension, organ damage, blindness, and priapism.
HbSC (mild sickle cell)
The HbSC form of sickle cell is a more mild form of the disease. The features and symptoms are largely similar, but patients with this disease are shown to have fewer and less severe reactions, though data on the exact cause is still under investigation.
Though this case is milder, the range of symptoms such as stroke, heart conditions, anemia, and other problems is still present, though it appears to be much more manageable.
HbS beta thalassemia (sickle cell thalassemia)
Sickle cell thalassemia is another variant of sickle cell, but one that is made up of two hemoglobin abnormalities, sickle cell, and beta-thalassemia, which has two variants. A person can have either variant of beta thalassemia along with sickle cell disease.
Depending on a person’s variant of beta thalassemia, it can cause them to produce no normal hemoglobin whatsoever, which increases the risk of complications from sickle cell, including pain, anemia, and other symptoms commonly associated with sickle cell.
How does someone get sickle cell disease?
Sickle cell in all of its forms is passed down genetically from parent to child. The specific mutation of the gene with the sickle cell trait determines the type of sickle cell that a person may develop.
In most cases, the mutation must be present and passed on by both parents for the child to present with the disease. Therefore a person can have one parent with the disease. While they may still carry the trait from that parent, they may not present with the disease or may present with little to no symptoms or actual deviation in the production of hemoglobin.
There are multiple variations of the disease, some that combine with other traits to form unique variations. This makes it more difficult to determine the likelihood that a person will be symptomatic. Still, if a person has both parents with the gene mutation, they are more likely to have at least one mutation themselves, even if that trait is recessive.
Although, if only one parent carries the trait and that trait is recessive, there is a chance that the child will not carry it.
If the parents are unsure of their genetic makeup, it is possible to test for the genetic trait that causes sickle cell. It is common to have babies tested when they are born to see if they have the disease, particularly if one or both parents carry the mutated gene. While testing is possible after birth, there is no guarantee of how the disease will manifest or the quality of life the person has. Parents must often rely on treatments to manage the condition once it presents itself.
How is sickle cell disease treated?
Sickle cell disease is a complex and complicated condition, and while it is possible to cure some forms of the disease, this cure is incredibly risky and not always effective. Instead, we will focus on four ways to treat and manage the disease.
One of the primary ways that sickle cell is treated is through symptom management. This can cover a broad range of things, but one that is most commonly used is medications.
Medications can be used to manage pain and treat symptoms such as hypertension that may occur due to sickle cell. Because each variant can manifest differently, each person’s case is unique, and the medication regimen they may be on is equally as unique.
Depending on the severity of the pain and other symptoms, it is possible to manage them with over-the-counter medications on an as-needed basis.
Lifestyle changes/at-home treatments
One of the best ways to manage the symptoms of sickle cell is with lifestyle changes that work to prevent episodes, reduce the frequency of health complications or manage the symptoms.
Dietary changes can help avoid possible triggers for symptoms, including improving your hydration, as dehydration can lead to pain and other problems. In particular, hydration and certain foods can help reduce inflammation and swelling, which are also common symptoms of the disorder.
Patients with sickle cell are also prone to repeat and even severe infections, which, if not managed, can lead to prolonged stays in the hospital. While maintaining a healthy diet is a key to immune health, it is possible to get at-home treatments such as booster shots and IV treatments focused on immune health, providing energy, and other benefits.
These options are often more accessible, affordable, and safer for people with sickle cell than going back and forth to the doctor or relying strictly on over-the-counter medications.
Wellness panels and other tests are also a great way to stay on top of the disease and manage your overall health in a preventative manner to try and control the disease.
One of the ways that doctors work to treat the disease is by transfusing healthy blood cells into a patient’s body. This helps to reduce the number of mutated blood cells a person has in their system at any one time, but the effect is only temporary.
While it cannot cure the disease, it can help to reduce the frequency of episodes and overall symptoms so that the person can live a more normal life while coping with the disease.
Stem cell/bone marrow transplants
The only known cure for some forms of sickle cell disease is to perform a bone marrow or stem cell transplant. Transplanting healthy bone marrow can cause the body to produce more healthy cells, thus lowering the number of sickle cells in the body. The same is true for a stem cell transplant from a healthy host. However, both procedures carry several risks.
Infections and complications are always risks with these procedures, so depending on the patient’s health, the procedure may not be advised as it is too great a risk.
The other prominent risk with this option is what is known as host vs. donor infections, which occur when the body of the recipient attacks the new cells as foreign matter. This causes a very severe autoimmune response. These types of responses are difficult to manage and can be deadly.
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