Chronic conditions

Sickle Cell Disease: Information for Parents

Sickle Cell Disease Information for Parents

Every year, roughly 2,000 babies are born with sickle cell disease, the most common inherited blood disorder in the United States. Children with sickle cell disease experience episodes of severe pain and ongoing medical challenges. Early and ongoing medical care can minimize complications and help children with the disorder lead full and active lives. 

The following frequently asked questions from the American Academy of Pediatrics (AAP) will help you learn more about sickle cell disease in infants and children, as well as explain the differences between sickle cell disease and sickle cell trait.

What is sickle cell disease?

In children with sickle cell disease, a protein called hemoglobin inside the red blood cells forms chains that clump together and cause the red blood cell to be shaped like a crescent moon or the letter C―called a sickle cell.  

Compared to normal red blood cells that are disk-shaped and flexible, sickled cells are stiff, fragile and sticky. This results in the blocking of normal blood flow, preventing blood, and the oxygen it carries, from getting everywhere in the body.

How do infants and children get sickle cell disease?

They are born with sickle cell disease. Sickle cell disease is a genetic condition, so children get it in the same way they inherit the color of their eyes, skin, and hair―through the combination of genes they inherit from their parents. 

What are the chances my baby will have sickle cell disease?
Everyone inherits one hemoglobin gene from their mother and one hemoglobin gene from their father. Inheriting one mutated or abnormal gene, but having a normal gene from the other parent, is called having a trait. Inheriting two abnormal hemoglobin traits or genes determines whether a child has sickle cell disease.To picture how it works, the normal hemoglobin gene is labeled A. The most common mutated hemoglobin genes or hemoglobin traits are called S or C. The mutated (changed or abnormal) hemoglobin gene associated with sickle cell disease is labeled S. Common types of mutated hemoglobin genes that combine with S to cause sickle cell disease are S, C, and Beta thalassemia.People who have inherited one of the following gene combinations DO NOT have sickle cell disease:A + A (AA): no sickle cell diseaseA + S (AS): carrier of the hemoglobin “S” gene, known as sickle cell traitA + C (AC): carrier of the hemoglobin “C” gene
People who have inherited one of the following gene combinations DO have sickle cell disease:S + S (SS): Sickle cell anemia or Hemoglobin SSS + C (SC): Sickle hemoglobin C disease or Hemoglobin SCS + beta thalassemia trait (S-beta thalassemia): a form of sickle cell disease

How do I know if my baby has sickle cell trait or disease?

Every state in the U.S. performs a newborn screening test for sickle cell disease. If this test finds signs of the disease, the baby is referred to a pediatric hematologist. If the test suggests sickle cell trait, the parents are counselled by the general pediatrician, and the child generally does not need to see a hematology specialist.

Early diagnosis, before infants show any symptoms, allows infants with sickle cell disease to get early treatment and may decrease their risk of infections and other serious complications.

In addition to regular visits with their pediatrician, children with sickle cell disease should see a pediatric hematologist at least periodically. These doctors specialize in the care of children with sickle cell disease.

Why is sickle cell disease more common in children of African heritage?

A carrier of a single hemoglobin S gene is said to have sickle cell trait or hemoglobin S “trait.” About 1 in 12 people of African ancestry carry the S trait. Sickle cell trait is also common in people with ancestors from the Caribbean, Middle East, India, South America, Central America, and Mediterranean countries such as Turkey, Greece, and Italy. Sickle cell trait is found today in descendants of these populations no matter where they live.

People with hemoglobin S trait alone do NOT have sickle cell disease. However, if their reproductive partner also has the hemoglobin S trait, then together they have a 1 in 4 chance (25%) of having a child with sickle cell disease. This is why even bi-racial and/or multi-racial children can have sickle cell disease; about 1 in 365 people of African ancestry have sickle cell disease.

Why is sickle cell disease sometimes called sickle cell anemia?

Sickle cell disease is an umbrella term for the many specific types of sickle cell disorders. Anemia―meaning a lower-than-normal number of red blood cells―happens with all forms of sickle cell disease. While normal red blood cells can live for 120 days, sickled cells last only 7 to 20 days; the body can’t replace them fast enough, which results in anemia.

Children who have inherited two abnormal genes have sickle cell disease; which specific genes have been inherited determines what the disorder is called. Sickle cell anemia refers to the two most severe forms of the sickle cell disease, hemoglobin SS and sickle beta zero thalassemia.

Main Types of Sickle Cell Disorders​
Hemoglobin SSThe most severe form, affecting 65% of children with sickle cell disease. Most or all the hemoglobin is abnormal, causing chronic anemia.
Hemoglobin SC DiseaseRoughly 25% of children with sickle cell disease have this generally mild to moderate form. Symptoms generally develop later in childhood, but may be as severe as in SS.
Sickle Beta Zero ThalassemiaA severe but less common form, accounting for 2% of sickle cell disease. It is similar to hemoglobin SS.
Sickle Beta Plus ThalassemiaAffects around 8% of children with sickle cell disease. This is generally considered a mild form of the disease, but severity can vary greatly.

Why are infants and children with sickle cell disease at higher risk of infection?

Sickle cell disease may cause damage to the spleen, kidneys, lungs and brain. Once damaged by sickled cells, the spleen may not be able to filter bacteria from the blood as well as normal. As a result, infants and children with sickle cell disease have a compromised immune system, which means they are more likely to have certain infections that can be fatal.  

Antibiotics to prevent secondary infections in infants & children with sickle cell disease:
National guidelines recommend newborns diagnosed with sickle cell disease (SS and S beta zero thalassemia) receive antibiotics twice a day until they are 5 years old.Research shows that children with sickle cell anemia given twice daily penicillin (an antibiotic) had an 84% less risk of Streptococcus pneumoniae bacterial infection―which can cause serious conditions like pneumonia and meningitis.  

Are there any health complications associated with only having sickle cell trait?

Most people with sickle cell trait do not have any symptoms of sickle cell disease. In very rare cases, however, people with sickle cell trait may experience complications of sickle cell disease such as “pain crises” and, in extreme circumstances, sudden death. According to the Centers for Disease Control and Prevention, more research is needed to find out why some people with sickle cell trait have complications and others do not.

What is outlook for children with sickle cell disease?  

Children with sickle cell disease can have episodes of pain that lasts hours or days; the disease can also cause damage to vital organs and increase the risk of serious infections, strokes, and other complications. Thankfully, the outlook for these children has improved significantly due to advancements in early diagnosis and treatment options.

Medications to reduce pain and prevent complications are available to help. For children with more severe forms of sickle cell disease, regular blood transfusions can also help relieve anemia. Today, other treatments are available to minimize complications and greatly improve quality of life and life expectancy. 

The average life expectancy for sickle cell disease patients has risen from less than 20 years of age in the 1970s to 42 years of age old for females and 38 years of age for males in 2005. Patients with milder forms of the disease may live twice that, according to a 2016 report.

Is there a cure for sickle cell disease?

Stem cell (bone marrow) transplants is the only cure for sickle cell disease. This treatment requires a donor with suitable bone marrow. Similar to other treatments, stem cell transplant has benefits and risks which should be discussed before proceeding. Other promising treatments being explored include gene therapy.  

A collaborative research effort led by the U.S. National Heart, Lung, and Blood Institute was created in 2018 to speed up the search for cures.

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