Here are some frequently asked questions about sickle cell disease:
- 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.
- How is it inherited?
You inherit sickle cell disease from both parents. If you inherit one sickle gene, you have sickle cell trait, but you won't develop sickle cell disease.
- What is sickle cell trait?
Sickle cell trait occurs when a person inherits a normal hemoglobin gene (Hb A) from one parent, and a sickle hemoglobin gene (Hb S) from the other parent. This results in hemoglobin AS or sickle cell trait. A person with sickle cell trait may also be called a sickle cell carrier. Sickle cell trait is not a disease and usually does not affect one's health, but individuals with sickle cell trait can pass the sickle hemoglobin gene to their children.
- How do you get sickle cell anemia or trait?
You inherit the abnormal hemoglobin from your parents. You cannot catch it from someone else or pass it to another person like a cold or other infections. You are born with sickle cell hemoglobin and it is present for life. If you inherit only one sickle gene, you have sickle cell trait and will not develop the disease. If you inherit two sickle cell genes, you have sickle cell anemia.
- How will I know if I have sickle cell trait?
A simple blood test called a hemoglobin electrophoresis will detect sickle cell trait. This test will tell if you are a carrier of the sickle cell trait or if you have the disease.
- Where can I be tested for sickle cell trait?
Your physician can give you the test or the test may be obtained at some hospitals, sickle cell centers, and health department clinics.
- 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.
- 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.
- How is it treated?
Treatments include medications, stem cell transplants, and early diagnosis and treatment.
- 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.
- How can I reduce the risk of painful episodes?
Avoid triggers like dehydration, sudden temperature changes, and high atmospheric pressure environments.
- How can I live with sickle cell disease?
Maintain a healthy diet, exercise regularly, manage stress, and keep up with medical appointments.
- Can I have a child with sickle cell disease?
If you have sickle cell trait and your partner has sickle cell trait, you may have a child with sickle cell disease.
- 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.
- What should future parents know?
People who are planning to become parents should know whether they are carriers of the sickle cell gene. If they are, they may want to seek genetic counseling to find out what the chances are that their child will have sickle cell trait or sickle cell anemia.
- How can I be tested?
Your doctor can do a simple blood test called a hemoglobin electrophoresis. This test will tell if you are a carrier of the sickle cell trait or if you have the disease.
- How is the testing done?
A small blood sample is taken from the infant's heel, usually before the baby leaves the hospital. The blood sample will show whether the baby has sickle cell trait, sickle cell disease or any other abnormal hemoglobin.
- What are "sickle cell conditions"?
They are sickle cell trait and the various types of sickle cell disease.
- What is hemoglobin?
Hemoglobin (Hb) is the special protein within the red blood cells that carries oxygen from the lungs to the rest of the body. Hemoglobin is what makes your blood look red in color.
- Where does your hemoglobin come from?
Your hemoglobin type is inherited through family genes. The color of your hair, the color of your eyes, and your hemoglobin type are all examples of things that are determined by genes. You receive one gene for hemoglobin type from your mother and one from your father. Hemoglobin A or normal adult hemoglobin is the most common type. There are over 500 different types or variations of hemoglobin.
- What is hemoglobinopathy?
