June 19th was officially designated as World Sickle Cell Awareness Day. The international awareness day is observed annually with the goal to increase public knowledge and an understanding of sickle cell disease, and the challenges experienced by patients and their families and caregivers. Here is some basic information about this complicated condition.
What Is Sickle Cell Disease?
Sickle-cell disease (SCD) is an inherited blood disorder. Those who have this inherited one sickle cell gene from one parent and another SCD gene from the other parent. Because it is inherited, SCD is not contagious, you cannot catch it from being around a person who has it.
The disease causes red blood cells, which are round when healthy, to become deformed, somewhat like a C-shaped farm tool called a “sickle.”
The disease has two components. One is the breakdown of the red cells due to the sickle shape that leads to a lower red cell count (anemia). The bone marrow tries to make more red cells to make up for the loss, but can’t keep up, causing the anemia.
The other component is the blockage of the blood vessels. Sickle cells can get stuck in small blood vessels and block the flow of blood and oxygen to organs in the body. The blockage can lead to acute pain, organ damage, serious infections, lung problems, or even stroke.
What causes the blood cells to deform?
Blood cells contain hemoglobin, an iron-rich protein that carries oxygen from the lungs throughout your body. Sickle cells contain abnormal hemoglobin called HbS caused by a mutation in the HBB gene. This abnormal hemoglobin causes the cells to deform to the sickle shape.
Who is affected by sickle cell disease?
Millions of people around the world have SCD. Those whose ancestors come from sub-Saharan Africa; regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy are more prone to the disease.
In the United States, it’s a major public health concern. It is the most common form of an inherited blood disorder.
According to the CDC, it is estimated that around 100,000 Americans are affected by sickle cell disease. SCD can affect any race or ethnicity but is more common in African Americans occurring in about 1 out of every 365 African-American births. Males and females are equally affected by sickle cell disease.
Diagnosis
SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth. Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.
Health problems of sickle cell disease
Sickle cell disease causes a range of problems related to the blockage of blood flow. Some of the most common complications are:
“Pain Episode” or “Crisis”: This is the #1 reason people with SCD go to the emergency room or hospital. When the sickle cells become stuck and clog small blood vessels, it can cause sudden pain from mild to severe, and last for any length of time.
Infection: People with SCD, especially infants and children, are at risk for harmful infections such as flu, meningitis, and hepatitis. This is mainly due to damage to the spleen, an organ that’s part of the immune system that helps fight germs.
Hand-Foot Syndrome: Swelling in the hands and feet is the one of first symptoms of SCD. When sickle cells get stuck in the blood vessels to the hands and feet, it blocks blood from flowing freely causing painful swelling of these extremities.
Eye Disease (Sickle Retinopathy): When sickle cells cause blockage in the small blood vessels in the inner lining (retina) of the eyes, it can damage the eye and lead to long term damage or blindness.
Acute Chest Syndrome (ACS): Blockage of the flow of blood to the lungs can cause a condition similar to pneumonia; symptoms include difficulty breathing, coughing, chest pain, and fever. ACS can be life-threatening and should be treated in a hospital.
Stroke: When sickle cells block blood flow to the brain depriving it of oxygen, a stroke can result in lifelong disabilities. Twenty-four percent of patients with sickle cell disease have a stroke by the age of 45 years.
How is sickle cell disease treated?
The goals of treating SCD are to relieve pain and to prevent infections, eye damage, and strokes. There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms.
Treatments can include receiving blood transfusions, maintaining a high fluid intake (drinking 8 to 10 glasses of water each day), receiving IV (intravenous) therapy (fluids given into a vein), and medications to help with pain.
For severe SCD, a medicine call hydroxyurea might be recommended. Research suggests that hydroxyurea can reduce the number of painful episodes and the recurrence of ACS. It also can reduce hospital stays and the need for blood transfusions among adults who have SCD.
Most pain related to SCD can be treated with over the counter pain medications such as ibuprofen and aspirin. Some people who have severe pain are given opioids (i.e. morphine) medications daily, along with additional pain medication. Some people may be admitted to the hospital for intense treatment.
Is there a cure for sickle cell disease?
To date, the only cure for SCD is a bone marrow or stem cell transplant. A bone marrow or stem cell transplant is a procedure that takes healthy stem cells from a donor and puts them into someone whose bone marrow is not working properly. These healthy stem cells cause the bone marrow to make new healthy cells.
Bone marrow or stem cell transplants are very risky and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match.
Sickle cell disease gets worse over time. Treatments are available that can prevent complications and lengthen the lives of those who have SCD. The treatment options can be different for each person depending on the symptoms and severity.
