SICKLE CELL ANEMIA DIAGNOSIS, TREATMENT AND CAUSES
Managing Symptoms and Developing a Treatment Plan
Sickle cell disease, a rare hematological disease, results in misshapen red blood cells that can block the flow of blood through the body (called vaso-occlusive crises), causing intense pain, as well as problems such as stroke, acute chest syndrome, joint damage, kidney issues, occasionally even heart problems.
Pfizer researchers are working to develop treatments for the condition and its complications. We are partnering to develop a potential therapy that would address vaso-occlusive crises, which is now in Phase III clinical testing.
Disease Education Information
What is Sickle Cell Disease?
Sickle cell disease is a group of inherited red blood cell disorders that causes the cells to be crescent (“sickle”) rather than disk shaped. It is traced to abnormalities in hemoglobin, the protein that carries oxygen throughout the body.
Patients with the disorder are now living longer than they did in the past, thanks to a better understanding of how the disease works and earlier diagnosis and treatment. Creating a plan for managing symptoms of the disease is critical in improving patient outcome and requires close collaboration with healthcare providers. This collaboration is especially important when patients make the transition from seeing a pediatrician to seeing a doctor who treats adults.
Sickle cell disease is usually accompanied by anemia (or low levels of blood), resulting from the quick breakdown of the fragile sickle red blood cells. The defect that causes thalassemia (or other conditions such as hemoglobin C or E) can also be inherited along with the defect that causes sickle cell disease. However, the signs and symptoms of the disease are similar to having only sickle cell anemia.
Who gets Sickle Cell Disease and How?
Sickle cell disease is passed on genetically by carriers or people with the “trait” (those who carry only one sickle cell gene along with one normal gene and typically do not have any manifestations of the disease other than mild anemia). If both parents carry the gene, there is a 25% chance per pregnancy of having a child with sickle cell disease and a 50% chance of passing the gene on to their children.
In the US, about 90,000 to 100,000 people have the disease and about one in 12 African-Americans carry the trait. In other parts of the world (Sub-Saharan Africa, the Middle East, South America, Caribbean Islands, and India), the prevalence is much more, with millions of people being affected.
What Are the Symptoms of Sickle Cell Disease?
Symptoms can vary in form and severity, depending on patient, but typically include
- Serious pain
- Shortness of breath
How Is Sickle Cell Disease Diagnosed?
Sickle cell disease is diagnosed by a blood test. In the US, all newborns are now screened for the condition before they are discharged from the hospital. Parents are usually given the results of this test at the child’s one-month checkup. If a child is diagnosed with sickle cell trait, his or her parents may wish to see a genetic counselor to understand what it means to be a carrier of the sickle cell gene and what the chances of having a child with the disease might be.
If the child has sickle cell disease, they should see a hematologist (specialist in blood disorders) to better understand the type of sickle cell disease the child has and to provide optimal care.
Can Sickle Cell Disease Be Treated?
There is currently no widely available cure for the disease. In cases where a patient's red blood cell count falls to a life-threatening level, blood transfusions may be needed. Bone marrow transplants have been used to treat some forms of the disease and have cured symptoms in some patients, but the transplant procedure can be risky and complex. Hydroxyurea has been used to help reduce some of the symptoms of the disease as well.
Managing symptoms is the key to helping patients live a normal life. Patients should understand the disease and their individual symptoms and track them closely, with the help of a hematologist, to understand what triggers them. Patients will need to see a hematologist at least twice a year and a primary care physician annually.
Because treatment relies on clear communication, patients should visit prospective doctors and choose a physician they are comfortable with. For patients on the brink of adulthood, it is best to get referrals while they are still being treated by a pediatrician.
A number of therapies are being developed. Stem cell treatment can cure the disease for some patients, while gene therapy holds potential for the future.