Facts About Sickle Cell Anemia (SCA)
Disclaimer: Not medical or professional advice. Always seek the advice of your physician.
What is SCA?
Sickle cell anemia is a genetic disorder caused by a mutation in the gene encoding hemoglobin. The mutation involves the substitution of one amino acid for another. However, this replacement significantly changes the properties of hemoglobin. It results in increased blood viscosity due to a lack of oxygen (it resembles the process of gelatin stiffening). Consequently, erythrocytes (red blood cells) lose their biconcave shape and become sickle-shaped.
The biconcave shape of normal erythrocytes allows them to stretch and bend, passing through small capillaries. This shape provides flexibility for transferring oxygen even through the tiniest blood vessels.
When erythrocytes become crescent-shaped, they lose their elastic properties. These cells get stuck in the capillaries and block the blood flow. In addition to decreased elasticity, sickle cells become very fragile, increasing their tendency to break down and release into the bloodstream (hemolysis).
Interesting Facts about SCA
- The earliest known descriptions of sickle cell anemia date back to 1846.
- About 5% of the world's population are healthy carriers of genes that cause sickle cell anemia.
- Patients with sickle cell anemia and asymptomatic sickle cell trait carriers are more resistant to malaria. This is due to the causative agent of malaria (Plasmodium parasites) being unable to infect sickle cells.
- Sickle cell anemia is still considered an incurable disease. But with the proper treatment, people with SCA can live a normal lifespan and have children.
- Sickle cell anemia is one of the world's most common genetic conditions. It is estimated that about 1,000 babies in the United States and 500,000 infants worldwide are born with this disease each year.
- People with sickle cell trait can develop the disease under certain conditions, such as low oxygen levels (climbing to high and extreme altitudes). Symptoms of sickle cell anemia can range from mild to severe. The condition causes different combinations of symptoms that often lead to complications of varying severity.
- Children with sickle cell anemia have a higher risk of developing stroke. Therefore, heart ultrasound is an essential procedure even for babies. This diagnostic test provides timely assessment for possible heart and blood vessel problems.
- Sickle-shaped red blood cells block blood flow in small blood vessels. Having insufficient levels of oxygen in tissues results in episodes of severe pains and skin ulcers caused by damaged blood vessels. The disease can affect blood vessels in the retina and lead to vision problems. Besides, people may have heart failure due to blockage of coronary arteries.
- Due to the decreased number of healthy red blood cells, people with SCA experience symptoms associated with a lack of oxygen: paleness, weakness, inactivity, dizziness, shortness of breath, physical development delays, jaundice, and dark urine.
- Patients with sickle cell anemia have weakened immune systems, so they are more vulnerable to infection than healthy people. As the disease progresses, it triggers the blockage of splenic vessels, which disrupts the filtration of all blood cells. The spleen becomes enlarged, gradually losing its functions. As a result, other blood cells (thrombocytes, leukocytes) fail to enter the bloodstream in sufficient quantity. The function of the body’s defense mechanisms decrease, causing frequent and more serious illness.
- A severe form of sickle cell anemia requires monthly blood transfusions to treat the complications of the disease.
Sickle Cell Anemia Clinical Trials
Visionaries Clinical Research is currently recruiting volunteers to participate in Phase 1 clinical trial to evaluate the efficacy and safety of an investigational drug in patients with sickle cell anemia. This study will include patients aged between 18 and 65 years (inclusive).
Interested in participating in a clinical trial?