If you've learned that your newborn or toddler has sickle cell disease, you – and other family members and friends – may have many questions.
Today, most cases of sickle cell disease in the United States are diagnosed through newborn screening. It's important to get the diagnosis early so that babies can start penicillin (or another antibiotic) to prevent infection. Contacting a primary care pediatrician early – and blood disease specialists who can work closely with the child and their families as they grow – can help prevent complications from the disease.
Hemoglobin is the part of the red blood cells that carries oxygen. In sickle cell disease, the hemoglobin can change the rounded shape of the red blood cells to a crooked C shape, like the tool known as a sickle. When this happens, the cells become sticky and can clog small blood vessels. It also makes the red blood cells more fragile and likely to break apart, leading to anemia.
Millions of people around the world suffer from sickle cell disease (SCD). The Centers for Disease Control and Prevention (CDC) estimates that it affects around 100,000 people in the United States. It occurs in approximately one in 365 black or African American births and one in 16,300 Hispanic American births.
Is SCD a Genetic Disease?
Yes. We all have two genes that determine what type of hemoglobin we have, one from each parent. People with sickle cell disease have two copies of the sickle gene that were inherited from both parents. When someone has a copy, they have a sickle cell trait, which means they are a carrier of the gene.
Sickle cell trait is common and affects one in 13 black children. While there are some problems associated with sickle cell traits, people with sickle cell traits are generally healthy. In fact, they are believed to be less likely to develop severe cases of malaria, which is why the disease was believed to have developed in people from areas around the equator where malaria is common.
There are other types of genetic hemoglobin diseases, such as thalassemia or hemoglobin C. Sometimes people are born with a sickle gene and a gene for another hemoglobin problem. The severity of their condition depends on the particular hemoglobin combination.
There is currently no cure for sickle cell disease or any other genetic hemoglobin disease other than bone marrow transplants or stem cell transplants.
What health problems could SCD cause?
When sickle cells clog blood vessels, it can cause pain and damage to organs or tissues due to insufficient blood flow. Coupled with the effects of anemia, this means babies and children with sickle cell disease are more likely to have complications from infections such as pneumonia. Vision problems; Blood clot; and breathing problems. Children with sickle cell disease can also get their spleen swollen if sickle cells get stuck there.
How can you help your child live a healthy life as they grow?
Children with sickle cell disease and their families can work together to prevent complications by doing the following:
- Stay well hydrated as dehydration makes cells more likely to sickle.
- Avoid extreme temperatures, especially cold, as this can also cause the cells to sickle.
- Avoid high altitude areas where there is less oxygen.
- Be careful with very intense exercise that can decrease the amount of oxygen available to the blood.
- Wash your hands regularly and avoid sick people as much as possible.
- Get all recommended vaccinations.
- Learn about all of the signs and symptoms of clogged blood vessels, anemia, swollen spleen, infections, blood clots, and lung problems so you know when to get immediate medical attention. Ask your child's doctor or medical team to help you understand the key warning signs for each of these signs based on your child's age.
Also check out this helpful toolkit created by the CDC and the American Society of Hematology. It explains common complications of sickle cell disease and measures for better health.
A close connection to medical care is vital because the earlier complications are diagnosed, the faster and more successfully they will be treated. There are also treatments like hydroxyurea that can help prevent complications. Children with sickle cell disease should see their pediatrician and specialist regularly, whether or not they have symptoms, so that they can work together to live the healthiest possible lives.
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