Sickle cell disease (SCD) is a group of inherited blood disorders that includes sickle cell anemia. This serious illness affects approximately 100,000 Americans. Risk factors include ethnicity—the abnormal sickle cell gene is more common among people of African-American and Hispanic heritage.

People with the sickle cell trait suffer repeated episodes of pain called sickle cell crises, for which they might need to seek medical attention.

Please continue reading to learn more about what triggers severe pain, how to prevent a sickle cell crisis, and medical treatment options for sickle cell anemia.

What causes sickle cell anemia?

Sickle cell disease is an inherited autosomal recessive disorder. It occurs when a person inherits one copy of a defective gene from each parent. The gene involved in SCD affects hemoglobin formation in red blood cells.

Red blood cells transport oxygen to every part of the body. Normal red blood cells are flexible and round and can move through blood vessels easily without interrupting blood flow. In people with sickle cell anemia, the red blood cells are sickle or crescent-moon shaped. These sickle cells are sticky and rigid and can slow down or interrupt blood flow in the blood vessels, causing symptoms.

What are the signs and symptoms of sickle cell anemia?

Common symptoms and signs of sickle cell anemia include:

Fatigue

Sickle cells have a shorter lifespan than healthy red blood cells. These abnormal cells die within 10-20 days instead of the usual 120 days. This results in anemia and causes fatigue because there isn’t enough oxygen delivery by the sickle cell hemoglobin to various tissues in the body.

Infections

Sickle cells can damage the spleen and increase the risk of infections. If an infant’s or child’s spleen is damaged, they may need antibiotics to protect against life-threatening infections.

Acute painful crisis

A pain crisis or vaso-occlusive crisis is a common symptom of sickle cell disease. Pain crises occur when sickle cells interrupt blood circulation in a blood vessel in the chest, joints, or abdomen. Sometimes, this causes mild pain, and at other times, it causes more severe pain that requires treatment in the hospital. Some teenagers and adults develop chronic pain due to joint damage, leg ulcers, or other complications. Priapism (a prolonged, painful erection) is common in men with sickle cell disease.

Swelling

Sickle cells can block blood flow in the small blood vessels of the feet and hands and cause painful swelling.

Vision problems

Sickle cells can get trapped in the smallest blood vessels in the eyes and cause sudden vision problems such as floaters, flashes, and dark shadows.

Slow growth and delayed puberty

Children and teenagers with sickle cell disease may have slow growth and delayed puberty due to a shortage of healthy red blood cells that are needed to carry oxygen and nutrients required for growth.

What are the major crises of sickle cell disease?

There are four major crises of sickle cell disease:

Vaso-occlusive crisis: This is a pain crisis that occurs due to a blockage of small blood vessels. It can begin suddenly and may be generalized or localized to one part of the body. It usually lasts for a few hours to a few days.
Aplastic crisis: In this type of sickle cell crisis, a viral infection temporarily suppresses RBC precursor cells in the marrow, causing worsening anemia.
Splenic sequestration: In this SCD crisis, a bacterial infection causes the spleen to enlarge rapidly, trapping red blood cells and preventing them from re-entering the circulation, causing worsening anemia.
Hyperhemolytic crisis: This sickle cell crisis is characterized by increased destruction of red blood cells due to infections, toxins, or certain drugs.

In the latter three types of sickle cell crises, hemoglobin levels fall rapidly, and the bone marrow cannot make red blood cells fast enough to compensate. This results in severe anemia, which can be life-threatening.

What is acute chest syndrome?

Acute chest syndrome is a life-threatening complication of sickle cell disease that can be triggered by infections, asthma, and pain crises. It is characterized by fever and respiratory symptoms such as chest pain, rapid breathing, cough, and shortness of breath. There is also the presence of a new radiodensity (infiltrate) seen in chest imaging studies. Clinically, acute chest syndrome appears very similar to pneumonia and is treated similarly. It is a medical emergency that needs to be treated promptly in the hospital. Without treatment in the emergency department and intensive care unit, acute chest syndrome can rapidly progress to multi-organ damage and even death.

How is sickle cell disease treated?

Sickle cell disease is treated mainly with a pain management plan, i.e., measures to relieve symptoms and prevent complications. The following treatments may be prescribed to people with this condition:

Medical treatment

Certain drugs can help to reduce the frequency of pain crises, such as narcotic pain relievers, hydroxyurea (Droxia, Siklos, Hydrea), and L-glutamine (Endari) which are taken orally by mouth and crizanlizumab (Adakveo) which is an injectable medication. A medication called voxelotor (Oxbryta) can improve blood circulation and lower the risk of severe anemia.

In addition to prescription medications, people with sickle cell disease can benefit from eating a healthy diet and taking folic acid and other vitamin supplements if required. The bone marrow needs vitamins to make healthy new red blood cells.

Vaccinations and antibiotics

Vaccinations are important for all children to prevent infections, especially for children with SCD. In addition, children with SCD may be prescribed penicillin from age 2 months to 5 years to prevent life-threatening infections. Adults may be put on penicillin lifelong if they’ve previously had lung infections or undergone surgical removal of their spleen.

Blood transfusions and surgery

Blood transfusions can treat symptoms and prevent complications in patients who have sickle cell disease. However, frequent blood transfusions can lead to a buildup of iron in the body which may need to be treated.

A bone marrow transplant (stem cell transplant) can be done in people with sickle cell disease to replace the diseased bone marrow with a healthy one from a donor. This is a risky procedure and is only recommended for people who have severe complications from sickle cell disease.

What should sickle cell patients avoid?

Sickle cell patients should avoid:

References:

https://www.cdc.gov/ncbddd/sicklecell/data.html#
https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
https://www.sciencedirect.com/topics/medicine-and-dentistry/sickle-cell-crisis#:
https://www.uptodate.com/contents/acute-chest-syndrome-acs-in-sickle-cell-disease-adults-and-children#
https://www.nhs.uk/conditions/sickle-cell-disease/living-with/#

Oxbryta

Drug Details

Generic Name:

Therapeutic Class:

Availability:

Common Brands:

Form: