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What to Know About Sickle Cell Anemia in Infants
By Ashley Marcin,
2024-07-26
Sickle cell anemia (SCA) is an inherited disorder of red blood cells. Some parents may learn that their infant has this disorder after prenatal testing. Hospitals also test for SCA after birth as part of newborn screening. Thomas Barwick/Getty Images This article originally appeared on Healthline
SCA, the most severe type of sickle cell disease (SCD), is a genetic disorder that affects the red blood cells and how they flow through the veins. This disorder is inherited, which means it passes down in families, and it has no universal cure.
Although most infants with SCA live to adulthood, prompt diagnosis and continued treatment are critical for improving quality of life and preventing serious complications.
Here’s what you need to know about SCA, including what symptoms an infant may experience and what treatments may help.
SCA is a genetically inherited blood cell disorder characterized by abnormal hemoglobin , a protein that transports oxygen throughout the body.
With SCA, a person’s red blood cells have a crescent shape and may die off sooner than healthy red blood cells. The atypically shaped cells may also block blood flow through the small blood vessels, leading to a host of symptoms and complications.
What are the symptoms of sickle cell anemia in infants?
The first symptoms of SCA in infants and toddlers are typically pain and swelling in the hands and feet. This may or may not be accompanied by a fever. Since infants can’t speak to express what hurts, they may become irritable or cry inconsolably .
This swelling is also known as hand-foot syndrome or dactylitis . It occurs when sickle cells block blood flow in the capillaries, reducing the blood supply to the bones and surrounding tissues.
SCA results from genetic mutations that affect hemoglobin, specifically hemoglobin S (HbS). This disorder is inherited in an autosomal recessive pattern . This means that during conception , two affected hemoglobin genes — one from each parent — must pass down to a child to cause the disorder.
Normal red blood cells are shaped like flat disks or doughnuts. With SCA, the red blood cells are sickle (crescent) shaped due to HbS. These cells are sticky and hard, which causes them to block the small blood vessels (capillaries).
The restriction of blood flow means that less oxygen and nutrients reach the tissues and organs throughout the body. This can cause pain, organ damage, and other complications, like infection.
What are the risk factors for sickle cell anemia in infants?
The Centers for Disease Control and Prevention (CDC) reports that around 100,000 people in the United States have SCD. One of the primary risk factors is a person’s ethnicity. Of the people with SCD, some 90% are African American, and between 3% and 9% are Hispanic or Latino.
Family history is another significant risk factor. If both parents are known carriers of the affected genes, there’s a 25% chance of passing the disorder on with each pregnancy.
How do doctors diagnose sickle cell anemia in infants?
Doctors diagnose most cases of SCA in pregnancy or shortly after birth during a standard newborn screening. Your healthcare professional will take a sample of blood and screen it for the sickle cell trait. If the screening comes back positive, they may seek to confirm it with another blood test.
How do doctors treat sickle cell anemia in infants?
Doctors treat SCA on a case-by-case basis. Treatment aims to address the symptoms a person has and prevent serious infections that may become life threatening.
Conservative treatment may include measures to prevent painful episodes, like avoiding extreme hot and cold temperatures, staying hydrated, and getting plenty of rest.
Medical treatment includes taking medications like:
Some children may be “cured” by having a bone marrow transplant or stem cell transplant . That said, this course of action carries significant risk and isn’t appropriate for everyone. Instead, doctors reserve it for the most severe cases of SCA that haven’t improved with other treatments.
What’s the outlook for infants with sickle cell anemia?
There’s no universal cure for SCA. The good news is that advancements in medical care — widespread newborn screening, immunizations, prophylactic treatment with antibiotics, and other interventions — have increased survival rates . Now, up to 95% of infants with SCA in the United States survive to adulthood.
Health issues that typically lead to early death include sepsis and issues with the heart and lungs. Continued monitoring and treatment may help improve a person’s quality of life and prevent these complications.
Frequently asked questions
How does sickle cell anemia affect babies?
Infants may have various symptoms with SCA, including swelling of the hands or feet (dactylitis), yellowing of the skin ( jaundice ), and anemia. The disorder may also slow an infant’s physical growth.
When does sickle cell start showing in a baby?
Infants with SCA may not have symptoms right away. Instead, symptoms tend to develop when they’re between 5 and 6 months old .
What is the life expectancy of a child with sickle cell anemia?
Approximately 95% of children with SCA live to adulthood. Life expectancy is currently 54 years, but continued advancements in medical treatment may increase life expectancy in the years to come.
Takeaway
SCA is a serious blood disorder that passes down in families. If your child’s born with SCA, chances are that a doctor will diagnose the disorder within their first year of life .
With early identification, appropriate treatment, and regular monitoring, people with SCA can lead relatively normal lives. Not only that, but the outlook also continues to improve with ongoing research and advancements in medical care.
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