About Sickle Cell Disease

Sickle Cell Disease (SCD) is an inherited blood disorder that affects an estimated 100,000 Americans. It disproportionately affects Black Americans and those of African dissent but is also found in people with ancestry from Central, South and Latin America; South Asia; southern Europe and the Middle East.

SCD causes red blood cells to be deformed, causing some cells to be in the shape of a ‘C’ rather than round. That C shape makes it hard for blood to flow through the body and get clogged in veins and arteries. Clogged arteries can deprive joints of oxygen resulting in significant pain and in extreme cases, the clogging can result in difficulty breathing, acute chest syndrome and even stroke. In addition, sickled or C shaped blood cells die off more quickly than round cells which can cause those with the condition to become anemic.

SCD is passed on to babies when both parents carry the SCD gene trait, even though those with the trait don’t exhibit any signs of SCD themselves. One in every 13 Black Americans carry the trait. If both parents have the trait, there is a 25% chance their child will be born with SCD. In fact, SCD affects one in every 365 African American births. In Prince George’s County, there are an estimated 1,600 people living with SCD, 1,000 of whom are adults.

Symptoms of SCD can begin at 5 to 6 months of age, and those symptoms can become worse as the child ages. Until recently, most children born with SCD didn’t make it into adulthood. Thanks to recent advances in management and treatment, more SCD patients are living well into adulthood, which is great news. 

Beginning in 2004, all babies born in the US are tested at birth for SCD and the trait. If you were born before testing was mandatory or if you were born outside the US, you may not be aware that you carry the sickle cell trait in your genes and can potentially pass the disease to your children if your spouse or birth partner also carries the trait. If you are unsure, you can ask your primary care provider for a simple blood test and you can seek genetic counseling before deciding to have children. If both you and your birth partner have the trait, there is a 25% chance that your child will be born with the disease. 

Sadly, even with better treatment protocols, the symptoms of SCD can be cumulative, causing increased degeneration of joints and significant increases in pain from SCD crises and vaso-occusive events (VOEs). As the pain from these crises gets worse, the patient may higher doses of pain medications, usually opioids, which can present to the undereducated emergency room technician as drug seeking behavior.

Symptoms of SCD

Symptoms of SCD usually appear when a child is 5 or 6 months old and can continue throughout the person’s life. Every person experiences SCD differently and symptoms can change as the patient ages. Some people experience mild symptoms and others experience severe episodes of pain, fatigue, jaundice, breathing problems and even stroke. Some of the most common symptoms of SCD include: 

Pain: The most common symptom of SCD is pain, which can be acute or chronic. Pain is caused by the sickled cells getting stuck in the blood vessels, especially around joints. Sickled cells are sticky and don’t deliver oxygen effectively so the cells get clogged in blood vessels resulting in pain. Pain episodes can come on quickly or build gradually, can last for a few hours or several days, and can affect any part of the body. Pain is generally managed with pain medication, including opioids, and can sometimes be ameliorated with heating pads. 

Anemia: Anemia is caused by the rapid turnover of the sickled cells which makes it difficult for SCD sufferers to maintain a sufficient supply of red blood cells to carry oxygen throughout the body. Anemia can cause chronic or episodic fatigue and weakness, as well as cause the skin to appear abnormally pale or yellow. It can also cause dizziness and fainting episodes. Anemia is treated with diet and can require the addition of iron supplements. An acute anemia episode can require a blood transfusion. 

Jaundice: Jaundice is when the skin, mucus membranes and the white part of the eyes appear light to dark yellow. It is caused when the red blood cells, specifically the sickled cells, break down faster than the liver can filter. This results in an increased production of a compound called bilirubin which is then released into the blood system resulting in the yellow coloring of the skin and eyes. 

Infection: People with SCD are more susceptible to bacterial infections. It is recommended that people with SCD stay current on all their vaccinations, including annual flu and covid shots and boosters as well as vaccines for pneumonia which can be life threatening.

Acute Chest Syndrome: Just as sickled cells can stack up and block oxygen to the joints, they can also block blood and oxygen from the lungs. This is a life-threatening condition called Acute Chest Syndrome and requires immediate medical attention. Left untreated, Acute Chest Syndrome can cause permanent damage to the lungs, severe difficulty breathing and it can deprive oxygen from being delivered to the rest of the body. Symptoms include severe pain in the chest area and serious difficulty breathing. 

Deep Vein Thrombosis (DVT): Most people associate DVT with long plane rides when you are required to sit for long periods of time with little ability to move your legs. It is also common among SCD patients because of stickiness of sickled cells increases the risk of blood clots. Untreated DVTs can also break off and move to the lungs causing a pulmonary embolism. 

Stroke: Sickled cells can block blood vessels, including those to the brain, which can result in a stroke. Strokes happen when the brain is deprived of oxygen which is a key component of sickled blood cells that back up and clog blood vessels. 

Vision problems: Changes in vision occur when sickled cells block blood flow to the eyes. This generally occurs in the retina of the eye and can come on quickly, often leading to permanent vision loss. 

Priapism: When sickled cells block blood flow to the penis, it can cause painful erections that can last a significant period of time. This condition, called priapism, can cause erectile dysfunction and even permanent damage to the penis.