June 19th is World Sickle Cell Day

Sickle cell disease (also known as sickle cell anemia) is a condition that affects approximately 100,000 Americans and millions of others across the world. Medical researchers over the past several years, have been working tirelessly to develop a definitive cure for sickle cell disease, and several have made promising progress.

In recognition of these efforts and in an attempt to continue raising awareness about the need for sickle cell disease treatments, June 19th is recognized every year as world sickle cell day. At St. Jude Labs, we want to do our part to bring attention to this widely-misunderstood condition by covering all of the information one needs to know about sickle cell disease, including its cause, symptoms, and the potential cures that are on the horizon.

What is Sickle Cell Disease and What Causes It?

Sickle cell disease encompasses a group of inherited red blood cell disorders and can come in numerous different forms. When healthy, red blood cells are supposed to be shaped like a flat disk that is almost perfectly round. In those with sickle cell disease, though, the red blood cells become deformed and are shaped like the letter “C” or the blade of a sickle – from which the condition gets its name. Along with deforming the shape of red blood cells, sickle cell disease also causes red blood cells to become hard and sticky.

Affected red blood cells die off much quicker than normal in a patient with sickle cell disease, causing them to suffer from a constant shortage of red blood cells. Deformed red blood cells are also more likely to get stuck as they travel through small blood vessels, increasing the likelihood of complications such as blood clots and strokes.

As an inherited disease, sickle cell disease is a condition that is present at birth. In order to develop the condition, though, a child must receive a sickle cell gene from both of its parents. The specific gene that is received from each parent dictates the type of sickle cell disease that the child will inherit.

One of the condition’s most well-known attributes is the fact that sickle cell genes are much more prominent in certain populations than in others. In Black populations, sickle cell disease occurs in about 1 out of every 365 births. In Hispanic populations, sickle cell disease occurs in about 1 out of every 16,300 births. While it is possible for Asians and those of European descent to carry the sickle cell gene, it is exceedingly rare.

Symptoms of Sickle Cell Disease

Symptoms of sickle cell disease typically appear about six months after birth and will persist throughout a person’s life, though they can vary from person to person and can also change over time. Some of the most common symptoms of sickle cell disease include:

• Anemia – Red blood cells are responsible for delivering oxygen throughout the body. Since sickle cells die much faster than healthy red blood cells, sickle cell disease patients frequently suffer from anemia – a shortage of red blood cells that causes prolonged fatigue.
• Pain Episodes – Sickle cell disease often blocks blood flow to the tiny blood vessels in a patient’s chest, abdomen, and joints, leading to periodic episodes of extreme pain called “pain crises”.
• Frequent Infections – Sickle cell disease can damage the spleen, making a patient more susceptible to infections.
• Swelling of the Hands and Feet – This symptom is caused by sickle cells interrupting healthy blood flow to the body’s extremities.
• Delayed Growth or Puberty – Since oxygen plays an important role in the development of a growing body, a lack of oxygen due to sickle cell disease can lead to developmental issues.
• Vision Issue – Sickle cell disease can block the tiny blood vessels that supply the eyes with oxygenated blood, damaging the retina and leading to vision problems.

Treatments for Sickle Cell Disease

A bone marrow or stem cell transplant is currently the only way to cure sickle cell disease. However, this procedure doesn’t always work and carries a high risk of severe complications. For this reason, stem cell transplants are only used to treat sickle cell disease patients with an especially severe case of the condition who are unlikely to survive without the procedure.

All other treatments for sickle cell disease are designed to minimize the symptoms that the condition causes rather than cure the condition itself. Antibiotics to prevent infection, painkillers to ease discomfort, and hormonal treatments to aid with developmental issues are all common types of medications used to help those suffering from sickle cell disease.If there is to be any light at the end of the tunnel, though, it is likely to come in the form of gene therapy. Today, numerous companies are working with the Nobel Prize-winning CRISPR-cas9 technology in order to develop treatments for sickle cell disease that will, in theory, all but completely eliminate the symptoms and complications that the condition causes. At St. Jude Labs, we, like so many others, are anxiously awaiting the results of these innovations and are looking forward to a future where the suffering caused by sickle cell disease is no more.