Sickle cell disease (SCD) is an inherited blood disorder that is present at birth. This means it is passed down through a parent’s genes. Children with SCD make an abnormal type of hemoglobin. This is the protein in red blood cells that carries oxygen to all parts of the body. With SCD, the body organs and tissues don’t get enough oxygen.
Healthy red blood cells with normal hemoglobin are round and move easily all over the body. When a child has SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle). These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels. They get stuck in small blood vessels and block blood flow. This blockage can cause pain. It can also damage major organs.
Sickle cells die sooner than healthy cells. Normally the spleen helps filter infections out of the blood. But sickle cells get stuck in this filter and die. Having fewer healthy red blood cells causes anemia. The sickle cells can also damage the spleen. Without a healthy spleen, children are more at risk for serious infections.
There are several complex types of the sickle cell gene. Some don’t cause symptoms or severe problems, but others do. Talk to your child’s healthcare provider about the specific form of sickle cell your child has.
Most children with SCD will start showing symptoms during the first year, often around 5 months.
Sickle cell is present at birth. It is inherited when a child has two sickle cell genes, one from each parent.
A child who has only one sickle cell gene is healthy. But he or she is a carrier of the disease. If two carriers have a child, there is a greater chance their child will have sickle cell disease.
Once parents have had a child with sickle cell disease, there is a 25% chance that another child will be born with sickle cell disease. There is also a 50% chance that a child will be a carrier, like the parents.
Having a family history of SCD increases a child’s risk for the disease. SCD mainly affects people whose families came from Africa, and Hispanics whose families are from the Caribbean. But the gene has also been found in people whose families are from the Middle East, India, Latin America, and Mediterranean countries. It has also been found in Native American Indians.
Most children with SCD will start to have symptoms during the first year of life, often around 5 months. Each child’s symptoms may vary. They may be mild or severe. Symptoms can include:
The symptoms of SCD may look like other disorders or health problems. Always see your child's healthcare provider for a diagnosis.
Most states check newborn babies for abnormal hemoglobin as part of routine newborn screening tests. State newborn screening includes tests for all newborns within the first few days of life. These tests identify serious, life-threatening diseases.
SCD may be found as part of newborn screening. Your family history, your child's medical history, and a physical exam are all included in the diagnosis. If the screening test shows SCD, a blood test called hemoglobin electrophoresis may be done. It can tell if your child is a carrier of sickle cell. It can also tell if your child has any of the diseases linked to the sickle cell gene. Other blood tests may also be done.
Your child’s healthcare provider will figure out the best treatment plan for your child based on:
Early diagnosis and preventing further problems is important in treating this disease. Your child's healthcare provider will refer you to a hematologist. This is an expert in blood disorders. Other specialists may also be involved in your child's care.
Treatment options may include:
Complications of SCD include:
SCD can affect any major organ. This can cause:
Advances in preventive care and new medicines have reduced the life threatening problems of sickle cell. But it is still a severe, chronic, and sometimes fatal disease. Your child should be carefully managed by specialists. How your child is managed depends on the following:
You may not be able to fully prevent your child from having complications of SCD. But helping your child live a healthy lifestyle can reduce some of the problems. Make sure your child has regular eye exams and gets stroke screening tests. Also talk with your child’s healthcare provider about making sure your child:
Avoid things that may trigger a crisis for your child. These include:
Help your child avoid infections by:
Call your child's healthcare provider or get medical care right away if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider:
The University of Chicago Medicine
5841 S. Maryland Avenue
Chicago, IL 60637 | 773-702-1000
Appointments: Call UCM Connect at 1-888-824-0200