Sickle cell disease (SCD) is the most common inherited blood disorder where red blood cells become sickle/crescent shaped. The most common type of this blood disorder is known as sickle cell anemia. People with this condition usually experience frequent infections, swelling in the hands and legs, chronic pain, severe tiredness, and delayed growth or puberty.
BY: GUY JABBAR
Although this rare disease affects all racial and ethnic groups, African Americans and Hispanic populations are disproportionately affected more by this disease.
Margo Turner has lived with sickle cell anemia all of her life. As an adult, she says “the chronic stabbing pain in my hips and joints has only gotten worse over the years.”
She then adds, “Although, at times… the pain comes and goes due to all the medications I’m prescribed.”
“The pain feels like being hit with a baseball bat!”
Most days Margo struggles to feel her best. Even as a child she’s always kept her disease to herself because of the many questions people would have about her sickness.
She remembers at eleven years her classmates would ask, “Why are your eyes yellow sometimes?” And her response, “It’s because of the sickness I was born with.”
“I get chronic headaches that I still get for almost a decade!”
Along with the frequent terrible headaches, Margo gets chronic pain in her hips and joints. She describes the pain as, “It feels like stabbing pain all over my body! Sometimes I can barely move when the pain starts.”
“It’s frustrating! I can’t control the endless pain!”
Margo shares, “It’s very frustrating because no pain medication really works for me. The pain gets so bad, I try my best to ignore it just to get through the day.”
Although sickle cell disease is rare, people who are affected by it like Margo, want to one day be free of this dreadful condition and just simply want to have the “best quality of life” that most people take for granted.
NOTE: Sickle cell anemia is a genetic disease that affects the shape and function of red blood cells, which carry oxygen in the body to organs like the heart, kidneys, lungs, brain and others.
According to studies, there are fewer than 200,000 cases per year of this rare inherited disease.
Medical professionals like, Dr. Rakshith Raj Bharadwaj, states your family history may increase your likelihood of inheriting this lifelong disease.
Dr. Bharadwaj says certain types of sickle cell disease can be dangerous or life threatening.
However, he advises you seek urgent medical attention — usually recommended by healthcare providers.
The doctor agrees that treatments for this disease can help you manage the condition.
Although, he sadly admits that there’s “no known cure” for sickle cell disease.
What is sickle cell disease?
Sickle cell disease is a group of blood disorders typically inherited from your parents. The rare disease causes the body to produce abnormally shaped red blood cells, sickles (crescents), which fail to properly deliver oxygen to body tissues.
This shape change disrupts the normal flow of red blood cells through the blood vessels, causing excruciating acute and chronic pain episodes.
According to research, both parents must pass on the defective form of the gene for the child to get affected.
WHAT YOU SHOULD KNOW: More than 95% of babies born with sickle cell disease in the U.S. can live long, high-quality, productive lives if screened, diagnosed and treated early on.
If untreated for a prolonged period it may lead to stroke, acute chest syndrome (a life-threatening complication), pulmonary hypertension or high blood pressure in lungs.
Additionally, this condition could also cause damage to several organs including kidneys, liver, and spleen due to reduced blood supply, blindness, sores or ulcers in the legs, gallstones, priapism or painful long-lasting erections noted in men with sickle cell anemia and osteoporosis – which is a disease that weakens your bones and makes them break easily, often from a minor fall or injury.
NOTE: Priapism is a condition in which a penis remains erect for hours in the absence of stimulation or after stimulation has ended.
Sickle cell disease symptoms?
Signs of sickle cell disease usually begin in early childhood. The severity of symptoms can vary from person to person. It may also lead to various acute and chronic complications, several of which have a high mortality rate.
Again, signs and symptoms vary from person to person, and may change over time. Common complications include:
- Painful episodes or crises
- Chronic headaches
- Hip Pain
- Joint Pain
- Hand-foot syndrome
- Acute chest syndrome infection
- Eye disease
- Stroke
How do you treat sickle cell disease?
Most doctors agree, like the signs and symptoms, treatment alternatives differ for each person suffering with sickle cell disease.
Here are some recommended treatments options:
- Pain medications. Medications such as Ibuprofen can be used to reduce pain during crises, Hydroxyurea (reduces pain episodes; it is also said to stimulate production of normal hemoglobin) and L-glutamine (Amino acid: reduces acute complications of the disease) can be used.
- Bone marrow transplantation. Also known as stem cell transplant, the therapy involves introducing healthy bone marrow stem cells from a donor.
- IV (Intravenous) therapy. Rehydration with intravenous fluids and oxygen therapy given through a mask to improve breathing can also be used as therapy for Sickle cell anemia.
- Blood transfusions. Most common treatment for complications of Sickle cell disease. This procedure involves you receiving a donor’s blood that matches your blood type.
A transfusion can help you if you’re anemic due to Sickle cell disease by adding to your body’s RBC, or Red Blood Cell supply. This allows your body to transport vital gasses and nutrients.
In conclusion, blood transfusions can help you maintain your RBC count to prevent complications such as severe anemia, hypoxemia, and stroke from disrupted blood flow.
Bottom Line
Sickle cell disease is a rare disease that affects nearly 200,000 people a year. The severity of symptoms can vary from person to person.
People who are affected by this painful disease may experience various acute and chronic complications, several of which are life-threatening.
Although this genetic disease often has a high-mortality rate, there are some recommended treatment options like: pain medications, bone marrow transplant, IV therapy, and blood transfusions.
When to see a doctor: Make an appointment with your doctor if you have any persistent signs or symptoms that worry you. Seek immediate medical attention. if you suffer from chronic headaches, painful episodes or crises, hip or joint pain. If you are experiencing any symptoms of sickle cell disease or have concerns about your blood health, it is important to speak with your doctor. They can help you determine the cause of your symptoms and recommend appropriate treatment options.
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