Sickle Cell Disease
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What is Sickle Cell?
Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood can each that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease.
What is Sickle Cell Trait?
Sickle cell trait (SCT) is not a disease, but having it means that a person has inherited the sickle cell gene from one of his or her parents. People with SCT usually do not have any of the symptoms of sickle cell disease (SCD) and live a normal life.
Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones.
The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest and abdomen), stroke and priapism (painful prolonged and unwanted erection). It also causes damage to most organs including the spleen, kidneys, eyes and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily infected by certain bacterial. Therefore, any fever in someone with sickle cell disease must be taken very seriously.
Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation.
Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary program of care.
Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crises, risk of stroke and other complications. Because red blood cells contain iron, and there is no natural way for the body to eliminate it, patients who receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove excess iron from the body, because it can gather in the heart, liver, and other organs and may lead to serious organ damage and even death. Treatments are available to eliminate iron overload (see below).
Hydroxyurea for treating Sickle Cell Disease
A single randomized clinical trial of 299 patients with SCD demonstrated that compared to placebo, hydroxyurea was associated with lower annual rates of pain crises, pain episodes of acute chest syndrome and need for transfusions. Hydroxyurea was first approved by the FDA for SCD in 1998 and is now available for adults and children with sickle cell anemia.
Transfusional Iron Overload
Patients with sickle-cell disease (SCD) receiving chronic transfusions of red blood cells are at risk of developing transfusional iron overload over time. Transfusional iron overload is characterized by an increase of labile plasma iron (i.e., non-transferrin bound iron) in the body, which can lead to functional impairment in vital organs. The organs that are at risk of damage due to iron overload include the liver, heart, pancreas, thyroid, pituitary gland, and other endocrine organs. Buildup of labile plasma iron in these organs can lead to hepatic cirrhosis, cardiomyopathy, diabetes mellitus, hypoparathyroidism, impaired growth, infertility, hypogonadism and even death. The body does not have a way to get rid of iron received from blood transfusions. An agent that chelates iron is therefore needed to get rid of excess iron in the body. There are two agents. One agent is given intravenously and the other is by mouth.
What is sickle cell disease?
Sickle cell disease is an inherited disorder that affects red blood cells. People with sickle cell disease have red blood cells that become hard and pointed instead of soft and round. Sickle cells cause anemia, pain and many other problems.
What is sickle cell trait?
If you have sickle cell trait, you have inherited the gene for sickle cell disease. Sickle cell trait does not turn into sickle cell disease. If someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease. There are about 2.5 million people in America with sickle cell trait. If sickle cell trait is not an illness, why are people tested?
People are tested for sickle cell trait so they understand if they might be at risk of having a baby with sickle cell disease.
What medical problems are caused by sickle cell disease?
The blockage of blood flow caused by sickled cells leads to many complications including chronic pain, infection, lung tissue damage, blindness, kidney disease and stroke.
How many people have sickle cell disease?
Sickle cell disease is a global health problem. In the United States it is estimated that over 100,000 people have sickle cell disease. About 2,000 babies are born with the disease each year in America.
How long does a person with sickle cell disease live?
The average life expectancy in America has improved since all children are now screened for it. Life expectancy has now increased to the mid 40 years of age range.
Are people of African descent the only group affected?
No. It is really important to recognize sickle cell disease is not just a disease of black people. Latinos have the second most common incidence in the US. Importantly, sickle cell disease is present globally including in those of the following ancestries: Portuguese, Spanish, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease also appears in Middle Eastern countries and in Asia. The country with the third highest prevalence in the world is India.
Is there a cure?
There is no universal cure for sickle cell disease. Those who are eligible to receive a bone marrow transplant do have a chance at a cure. Research in gene therapy is currently underway.
What are some promising treatment developments?
There are dozens of new treatments currently under investigation. Recently, in 2017, the first new treatment for SCD was approved by the FDA. Endari reduces the frequency of pain episodes and can be given to individuals age 5 and older who either do or don’t already take hydroxyurea.
Can people with sickle cell disease live a productive life?
Yes. But like all patients with chronic disease, sickle cell patients are best managed in a comprehensive multi-disciplinary program of care and a strong extended support system.