Understanding Sickle Cell Disease - Then and Now

WHAT IS SICKLE CELL DISEASE?

Sickle cell disease is the most common inherited blood condition. It affects red blood cells, which are responsible for carrying oxygen throughout the body via a protein called hemoglobin. In people with sickle cell disease, a small hemoglobin difference causes red blood cells to change, resulting in hemolysis, early red cell breakdown, and vascular blockage/occlusion. When red blood cells containing sickle hemoglobin become deoxygenated, they become rigid and sickle-shaped. This causes them to clump together, instead of flowing freely through small blood vessels. This can cause pain crises when oxygen doesn’t reach bone or muscles, or acute chest syndrome and stroke when oxygen doesn’t reach lung and brain tissue.

WHO DOES IT AFFECT?

Sickle cell disease occurs most commonly in people with origins from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia.

WHAT DO WE KNOW ABOUT IT?

Sickle cell disease has existed for thousands of years but was first observed by Western doctors in 1910. Walter Clement Noel, a Chicago dental student from Grenada, sought medical attention due to a pain episode and symptoms of anemia. When his doctors, including Dr. James Bryan Herrick, viewed his blood under a microscope, he noticed that his red blood cells were sickle-shaped. Over the next several decades, doctors learned that sickle cell disease is genetic and that hydroxyurea – an anti-cancer drug – can reduce pain episodes and other complications. Other therapies to treat individuals living with sickle cell disease include blood transfusions and newer medications such as L-glutamine (Endari), voxelotor (Oxbryta), and crizanlizumab (Adakveo).

WHAT DOES TREATMENT LOOK LIKE?

Although bone marrow or stem cell transplantation is a cure for sickle cell disease, you need to have a sibling without sickle cell disease who is a perfect match for this to be considered. The availability of a sibling donor is relatively uncommon so currently, there is no widely accessible or “universal” cure for sickle cell disease.

Another disappointment is that there are no treatments that target sickle cell-related acute pain. Pain treatment remains supportive, similar to that used in 1920 to treat Walter Clement Noel. The medication can calm the pain until it wears off. However, no medication specific for sickle cell-related pain exist so that the pain intensity reduction could be long-lasting or the pain episode could be shorter.

General treatment approaches today focus on early detection, symptom management, and complication prevention. As more and more children with sickle cell live to adulthood, thanks to improvements made over the years, the push toward a cure is stronger than ever – and that’s why we’re here. We’re in this together.

Listed below you’ll find suggested at-home practices, available medications, and treatments. We encourage you to work directly with your medical care team to create a treatment plan that is right for you.

AT-HOME/HOLISTIC PRACTICES

Today, doing well with sickle cell means maintaining a healthy, balanced lifestyle, even though there is little data to support this we encourage a mix of the below practices:

Eating clean fruits, vegetables, whole grains, legumes, and organic meats (where possible)
Drinking plenty of water
Low-cardio exercise
Yoga, meditation, and massage
Relaxation, self-care, and creating a safe stress-free space make a difference

Find support in your medical team, family, friends, support groups, therapists, and continue to educate yourself in order to make informed decisions.

MEDICATIONS (LISTED IN ORDER OF FDA APPROVAL)^1,2,3,4,5

Hydroxyurea (Droxia, Hydrea, Siklos). In 1998 the FDA approved hydroxyurea as a treatment for sickle cell anemia in adults only. In 2017 it was approved in patients age 2 and older who have sickle cell anemia with recurring moderate to severe painful crises. Daily hydroxyurea reduces the frequency of painful crises, acute chest syndrome episodes, and might reduce the need for blood transfusions and hospitalizations. It can also increase your risk of a reduction in your blood counts. If pregnant, stop taking this drug and speak to your medical team for guidance.
Endari [L-glutamine oral powder] is one of the first treatments for SCD in nearly 20 years. In July 2017, the FDA approved Endari. It is available for adults and children 5 years and older to reduce the acute complications of sickle cell disease. The most common side effects in clinical studies were constipation, nausea, headache, pain in the stomach area, cough, pain in the hands or feet, back pain, and chest pain.
Adakveo [Crizanlizumab] is an infusion treatment used in people 16 years and older who have sickle cell disease to help reduce how often certain episodes (crises) happen. In November 2019, the FDA approved this medication to reduce the frequency of vaso-occlusive crises (VOCs) in adults and pediatric patients aged 16 years and older with sickle cell disease. Given through a vein, it helps reduce the frequency of pain crises. It works by making blood vessels and certain blood cells less sticky. Side effects can include fever, chills or shivering, nausea, vomiting, tiredness, dizziness, sweating, hives, itching, shortness of breath, or wheezing.
Oxbryta [Voxelotor] is a prescription medicine used for the treatment of sickle cell disease in adults and children 12 years of age and older. It works on hemoglobin S to interfere with the first step of the process that causes red blood cells to sickle (polymerization). Since Oxbryta impacts this very first step, it helps to prevent sickling and hemolysis (the breakdown of red blood cells). Hemolysis can lead to anemia (having too few red blood cells). Side effects can include headache, nausea, diarrhea, fatigue, rash, and fever. Voxelotor received FDA approval in November 2019.

TREATMENTS

Pain-relieving medications. Your doctor might prescribe narcotics/opioids or non-steroidal anti-inflammatory agents to help relieve pain during sickle cell pain crises.
Blood transfusions. For red blood cell transfusions, red blood units are obtained from a supply of donated blood, then given through a vein to a person with sickle cell disease. This increases the number of normal red blood cells, which helps reduce symptoms and complications. Risks include immune response to the donor blood, which can make it hard to find future donors; infection; and excess iron buildup in your body. Because excess iron can damage your heart, liver, and other organs, if you undergo regular transfusions or receive many transfusions over time you might need treatment to reduce iron levels. These treatments are called chelation therapy.
Stem cell transplant also is known as Bone Marrow Transplant (BMT), is the only known cure for sickle cell disease. It involves replacing abnormal bone marrow affected by sickle cell disease with healthy bone marrow from an eligible donor, such as a sibling, who doesn’t have sickle cell disease. Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually children, who have significant symptoms and complications of sickle cell disease. The procedure requires a long hospital stay. After the transplant, you’ll receive drugs to help prevent rejection of the donated stem cells. Even so, your body might reject the transplant, leading to the return of your sickle cell disease. The medications used to prepare your body to receive the stem cells can have many complications or side effects. Treatment also focuses on early detection of problems, symptom management, and complication prevention.