Conditions Sickle Cell Anemia
Sickle cell anemia (Hb SS) is an inherited condition of the blood. In a healthy person, red blood cells are a round, donut shape. In a person affected by Hb SS some of the red blood cells are a crescent or sickle shape. These abnormally shaped cells do not live as long as normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if Hb SS is identified and treated early in life, individuals often can lead healthier lives.
How common is sickle cell anemia?
Sickle cell anemia is more common in certain populations and ethnicities. It is most common in people of African descent. It affects one out of every 375 African American infants. However, it is also common in people whose families come from South or Central America (especially Panama), the Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia.
Also known as
- Hb SS
- Hb SS disease
- S,S disease
- Hemoglobin S Disease
- Sickle cell disease
Your baby’s doctor may ask you if your baby is showing any of the signs of Hb SS (see Early Signs below). If your baby has certain signs, your baby’s doctor may need to treat him or her immediately.
If your baby’s newborn screening result for sickle cell anemia (Hb SS) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, a few babies do have the condition, so it is very important that you go to your follow-up appointment for a confirmatory test. Because signs of Hb SS can develop shortly after birth, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve checking your baby’s blood sample for abnormally shaped red blood cells. If your baby has Hb SS, he or she will have a large number of red blood cells that are sickle or crescent shaped rather than donut-shaped. Clinical genetic testing for Hb SS is available and may be necessary to confirm the diagnosis.
About Sickle Cell Anemia
Signs of sickle cell anemia (Hb SS) usually begin a couple of months after birth. In some cases, signs may not appear until childhood.
Early signs of Hb SS include:
- Sleeping longer or more often
- Difficulty breathing
- Pain or swelling in the hands or feet
- Cold hands or feet
- Pale skin
These signs can occur if your baby has a low number of red blood cells or if the sickle-shaped red blood cells stick together and block a blood vessel.
If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.
Dehydration occurs when an individual does not have enough fluid in his or her body. Babies with sickle cell anemia (Hb SS) need to make sure they get plenty of fluids because dehydration can increase the pain associated with Hb SS.
Children with Hb SS may need pain medication. Pain associated with Hb SS can usually be managed through over-the-counter painkillers like Tylenol. If it continues or becomes severe, your baby’s doctor may prescribe stronger medicines.
If your baby has Hb SS, he or she may develop repeated infections, especially during childhood. Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.
Your baby’s doctor may also prescribe Hydroxyurea if your baby’s Hb SS is severe. This medication prevents anemia (low levels of red blood cells) by keeping the red blood cells from becoming sickle or crescent-shaped.
Some children with Hb SS may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with Hb SS.
Blood transfusions can also help prevent strokes. A stroke occurs when sickle-shaped red blood cells block a blood vessel that leads to the brain.
Treatments can help relieve the signs, symptoms, and complications of sickle cell anemia (Hb SS). Children who receive treatment for Hb SS can lead healthier lives than those without treatment.
Even with proper treatment, your child may still experience some signs and symptoms such as pain, anemia, and yellowish skin (jaundice). The more carefully you follow your child’s treatment plan, the healthier he or she can be.
It is important to screen for and treat Hb SS because, if left untreated, babies can die within their first year of life.
Every cell of the human body needs oxygen. One job of our blood is to bring the oxygen we breathe from our lungs to the different parts of our body. Round or donut-shaped red blood cells carry the oxygen in the blood and can move easily through our blood vessels.
Babies with sickle cell anemia (Hb SS) do not make enough healthy red blood cells. If your baby has Hb SS, his or her body makes some red blood cells that are a crescent or sickle shape rather than a round, donut shape. These unusually shaped cells do not last as long as normal red blood cells. This can lead to anemia (a low number of red blood cells).
The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood. If red blood cells are not able move through the blood vessels, the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.
Hb SS is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for Hb SS, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with Hb SS is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Sickle Cell Anemia
Support groups can help connect families who have a child or other family member affected with sickle cell anemia with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
- American Sickle Cell Association
- Children’s Sickle Cell Foundation
- Sickle Cell/Thalassemia Patients Network
- Sickle Cell Disease Association of America
The New England Genetics Collaborative created a website called "GEMSS: Genetics Education Materials for School Success." When your child reaches school age, you can provide teachers and school administration with this resource specifically for children with sickle cell anemia.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician who specializes in hematology (blood conditions) or other medical resources in your community. A team of specialists can work with your child and family to create an individualized treatment plan.
Because sickle cell anemia is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for sickle cell anemia, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.
In stories, many families refer to their condition as sickle cell disease. This is another name for sickle cell anemia.
Danyella was diagnosed with sickle cell anemia through Minnesota’s newborn screening program. With the care of a local sickle cell clinic and her parents’ efforts, Danyella is staying healthy. Read her story.
Stacey has three children with sickle cell anemia. Even though life is challenging for her family, Stacey says her children are joyful and can “be anything they want to be.” Watch their story.
Shanoah Moore is an eight-year-old child who was diagnosed with sickle cell anemia when she was a baby. Even though the condition is challenging and painful at times, Shanoah lives a happy and mostly normal life. Listen to Shanoah and others with sickle cell anemia tell their stories on New York Times’ Patient Voices web page.
Tiffany is a 26-year-old woman with sickle cell anemia. Tiffany is a mother who is working, going to school, and succeeding in life. She talks about how treatment for sickle cell anemia has advanced since she was born. Watch Tiffany tell her story in this YouTube video.
References & Sources
http://rarediseases.info.nih.gov/GARD/Condition/8614/Sickle_cell_anemia.aspxVisit the Screening, Technology And Research in Genetics (STAR-G) Project for more information on sickle cell disease