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Sickle cell disease is a disease that affects red blood cells in the body. It makes those blood cells into a crescent shape rather than a full circle. You can think of it as a moon, where it sometimes looks like a full circle, but can also look like a piece has been cut out. Crescent - or sickle-shaped - blood cells, however, are much more dangerous than the phases of the moon.
To understand the importance of blood cells, you have to understand the process of breathing. When we breathe in, we take in oxygen from the air. When we breathe out, we breathe out carbon dioxide. Red blood cells are made to carry the oxygen that is brought to the lungs to different tissues within the body. Once the oxygen is delivered, the red blood cells will also collect carbon dioxide and take it back to the lungs to be exhaled. These regular blood cells are able to do their jobs because they can bend in order to move easily in the body, carrying oxygen smoothly throughout the blood vessels. Sickle-shaped blood cells complicate this process. Due to their unusual shape, they are prone to getting stuck on the blood vessel walls, piling up on each other and blocking the passageways. They are also tougher than regular blood cells, and cannot bend easily. This means that the blood cells can get stuck in tight spaces, blocking blood flow and leading to serious issues such as eye problems, pain, infection, and stroke.
Where does this disease come from? Sickle cell disease is an inherited trait, meaning that it can be passed down. Parents will have a sickle cell trait, a condition in which certain proteins are produced in the blood. Generally, people with the sickle cell trait will not know that they have it, have no symptoms, and will be healthy physically. Their children, however, will obtain sickle cell disease because of the trait that is present in their parents. It is shown that the sickle cell trait and disease are most common among people whose ancestors come from Africa, the Caribbean, and some parts of South and Central America. It is also seen in people whose ancestors come from Greece, Turkey, Italy, India, and the Arabian Peninsula. On average, there are “about 100,000 people in the United States” (Johnson) that have sickle cell disease. Anyone can have their blood tested by a doctor to determine whether they carry the sickle cell trait. This is an important step for couples and parents who are thinking about having kids.
There are different types of sickle cell disease, the main ones being:
● HbSS - A person who gets a
sickle cell gene from each
parent. This will pass down
sickle cell anemia, which is a
very dangerous and severe type
of anemia.
● HbSC - A person who gets a
single sickle cell gene from one of their parents. The
other parent will pass down a gene that makes the protein in your blood abnormal.
This type of sickle cell is less severe than HbSS.
● HbS Beta-thalassemia - A person who gets a sickle cell gene from one of their
parents, and a gene for another type of anemia from the other.
● Sickle Cell Trait - If a person gets only one sickle cell gene, then they won’t have
sickle cell disease. However, they can pass the gene to their children. This person
has the sickle cell trait, as explained previously.
So how do you know if you have sickle cell disease? The best way to determine that would be to visit a doctor and get diagnosed/tested. Testing can be done for adults, newborns, or fetuses. Usually, signs and symptoms will begin within a person’s early childhood in the form of a low red blood cell count, infections that will come and go repeatedly, and episodes of pain. Symptoms can very from person to person, where some people will only feel mild pain while others must be hospitalized, or feel intense pain. It is always better to find out early on whether or not you or your loved ones have the disease in order to find proper treatment early on.
There are a few early symptoms that can be seen in people with sickle cell. These symptoms include:
● Jaundice, (a yellowish color of the skin) or icterus (when the white part of your eye
is yellow).
● Fatigue (extreme tiredness) as a result of being anemic.
● Painful swelling in the hands and feet.
Jaundice is one of the most common signs of the disease, and should be looked at by a doctor when there is yellowing of the skin or eyes. As time goes on, more harmful symptoms may arise. Here is a list of some these symptoms and complications:
● The tissue inside of the lungs can be damaged, which can lead to trouble
breathing, chest pains, and fever.
● Sharp pains can occur in any part of the body, and in more than one spot at a
time.Usually, these pains can pop up in the chest, back, arms, and legs. This can
make moving around difficult.
● Eye problems can develop, leading to partial blindness in the future.
● Small stones can get stuck in the gallbladder (the organ that helps you digest
food).
● Pain can surface in the joints, which can also affect how much a person can walk
or move around.
● Pregnancy problems, where pregnant women can develop blood clots. There can
also be complications such as miscarriages, babies born early (or prematurely),
and babies being born with a lower weight than normal.
● Anemia (or lack of healthy red blood cells) that is severe enough to be life
threatening.
● Dark urine, meaning that the kidneys are damaged.
● Stunted growth and puberty in children.
● An enlarged spleen, which can lead to weakness, paling of the lips, rapid
breathing, rapid heart rate, dehydration (thirst), and pain in the abdomen.
● Infertility (inability to impregnate) in males.
● Heart failure.
● Damage to the liver, which helps to digest food and remove toxic materials from
the body.
● Priapism (a long, painful erection when blood flow is blocked by sickled cells).
● Kidney problems (the organ that filters urine, leading to frequent peeing or
bedwetting) in early childhood.
● Strokes or brain injury, which can make learning difficult. This can lead to a delay
in the ability to make decisions, and get a job later on in life.
The only known cure (currently) for sickle cell disease is a bone marrow transplant, but otherwise, it is a lifelong disease. Bone marrow is a substance found in the center of the bone, and it produces blood cells. It is also known to have a spongy texture. A bone marrow transplant is when a doctor takes the healthy blood of one person’s bone marrow and replaces the unhealthy blood of the patient. This procedure can be risky, and the blood needs to be very closely matched in order for it to go smoothly. Other people with sickle cell disease may not be able to give blood, but anyone else can and healthcare professionals encourage people to donate in order to help sickle cell carriers with their symptoms.
There are, however, other treatments that can reduce the symptoms. Treatments can be obtained through medicine and transfusions. Certain medications should be checked for side effects in adults, children, and pregnant women before use, and you should always consult a doctor before taking such medications. The most common are:
● Hydroxyurea (Hydrea) - This
ensures that there is a good
amount of oxygen within
the body. It is not recommended
for pregnant women, but is
ecommended for
children younger than nine
months old.
● L-glutamine Oral Powder
(Endari) - This medication helps
to reduce the number of
sickle cells within the blood. It is recommended for ages five and up.
● Voxelotor (Oxybryta) - This medication helps to boost the levels of hemoglobin, the
protein that carries oxygen within the red blood cells. It is recommended for aged
twelve and up.
● Crizanlizumab-tmca - This medication reduces the level of pain the user will feel by
preventing sickle cells from clotting and blocking the blood vessel passage. It is
recommended for age sixteen and up.
Transfusions, as we touched on before, are the act of taking blood donated from one person and putting it into another person’s bloodstream. There are three types of transfusions that can help people with sickle cell disease:
● Acute Transfusion - used to treat symptoms of people with severe anemia
● Red Blood Cell Transfusion - helps to increase the number of red blood cells within
a person. This transfusion transfers normal red blood cells into someone’s
bloodstream in order to help their cells carry oxygen.
● Regular/Ongoing Blood Transfusion - reduces the chance of someone having a
stroke by having frequent transfusions.
For those who choose not to go through with bone marrow transplants, changes in daily life can help with symptoms. These can be paired with medication, or transfusions:
● Learning as much as possible about the disease. This will help during doctoral
visits, so the patient is able to relay information to their doctor.
● Setting up regular doctor visits for health checks.
● Regular physical activity is recommended, as long as it is not too strenuous on the
body.
● Eating heart-healthy foods, avoiding alcohol, and drinking extra water (8-10
glasses) are changes to the diet that can help symptoms.
● Quitting smoking. Nicotine, a drug found in tobacco products, attaches to the
protein on red blood cells that carry oxygen, lowering the overall oxygen level in
the blood. Reducing nicotine levels in the body will help the blood carry the
maximum amount of oxygen.
● Avoiding decongestants (medications that will constrict blood vessels, making it
harder for red blood cells to pass through).
● Annual flu shots prevent unnecessary infections.
● Regular eye exams.
● Practicing hand-washing regularly.
This list is mostly pertaining to adults, who can control what they come into contact with, but what about children? For parents, there are things that can be done to prevent severe problems for their children. These can include:
● Avoiding reptiles that may be carrying salmonella, an infection common among
children. Salmonella can cause diarrhea, chills, fever, etc.
● Avoiding extreme cold/heat or abrupt temperature changes. A simple example can
be to encouraging children to ease into pool water instead of jumping in.
● Do not travel in an unpressurized aircraft.
● Speaking to children’s teachers about the disease and what can be watched out
for.
● Learning how to feel your child’s spleen to check if it is larger than normal.
● Seeking help if you yourself feel depressed and/or anxious.
● Knowing the more severe symptoms of sickle cell disease in order to know when
to seek emergency medical care.
There are various resources made to inform one about sickle cell disease and ways that you can help. Donating blood is one method that can be used, as well as learning about the disease and spreading awareness.
References:
Johnson, J. (2020, September 13). Sickle cell disease: Causes, types, symptoms, and more. Medical News Today. Retrieved October 22, 2021, from https://www.medicalnewstoday.com/articles/315801.
NIH2021. (2021). Sickle cell disease. Retrieved September 20, 2021, from https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease
Sickle Cell Disease Association of America. (2019, April 02). Home. Retrieved September 20, 2021, from https://www.sicklecelldisease.org/?gclid=Cj0KCQjwv5uKBhD6ARIsAGv9a-zJBsip8dBei4-H64NkmBy6RRQxBOE9RKGZWrkSgvWZkC57aUKcyzoaAv0XEALw_wcB
U.S. National Library of Medicine. (2020, August 18). Sickle cell disease: MedlinePlus Genetics. Retrieved September 20, 2021, from https://medlineplus.gov/genetics/condition/sickle-cell-disease/
Contributors:
Author: Kayjah Taylor
Editor: Kaitlyn Longstaff
Public Health Scientist: Hira Mughal
@werise4wellness