Red blood cell dysfunction caused by heredity is known as sickle cell anemia (SCA). Prenatal testing may reveal to some parents that their unborn child has this condition. As part of the newborn screening process, hospitals also test for SCA after birth.
The most severe form of sickle cell disease (SCD), known as sickle cell anemia (SCA), is a hereditary condition that impairs red blood cell viability and vein flow. There is no known cure for this illness, inherited and runs in families.
Even though the majority of infants with SCA survive to maturity, maintaining treatment and getting a diagnosis as soon as possible is essential to enhancing quality of life and averting major consequences.
Here's all the information you need about SCA, including possible symptoms for infants and possible treatments.
What is sickle cell anemia in infants?
A genetic blood cell condition called sickle cell anemia (SCA) is typified by aberrant hemoglobin, a protein that carries oxygen throughout the body.
Red blood cells with sickle cell anemia (SCA) have a crescent shape and may expire earlier than healthy red blood cells. In addition to obstructing blood flow through the tiny blood veins, the abnormally formed cells may cause a variety of symptoms and consequences.
What are the symptoms of sickle cell anemia in infants?
Pain and swelling in the hands and feet are usually the initial signs of SCA in young children. There may or may not be a fever along with this. Infants may become agitated or cry uncontrollably because they are unable to articulate their pain through speech.
Dactylitis or hand-foot syndrome are other names for this swelling. It happens when sickle cells obstruct capillary blood flow, hence lowering the amount of blood that reaches the surrounding tissues and bones.
Additional SCA symptoms and indicators include:
What causes sickle cell anemia in infants?
Genetic changes affecting hemoglobin, particularly hemoglobin S (HbS), cause sickle cell anemia (SCA). This illness has an autosomal recessive inheritance pattern. This implies that for the condition to manifest during conception, a kid must inherit two mutated hemoglobin genes, one from each father.
Normal red blood cells resemble doughnuts or flat disks in form. Because of HbS, red blood cells with SCA have a sickle or crescent shape. Because these cells are stiff and sticky, they clog the capillaries or tiny blood arteries.
Less oxygen and nutrients go to the body's tissues and organs as a result of the blood flow restriction. Infection and other consequences, including as discomfort and organ damage, may result from this.
What are the risk factors for sickle cell anemia in infants?
According to the Centers for Disease Control and Prevention (CDC), around 100,000 Americans suffer from sickle cell disease. One's ethnicity is one of the main risk factors. Ninety percent of SCD patients are African Americans, while three to nine percent are Hispanic or Latino.
Another important risk factor is family history. There is a 25% risk of passing on the condition with each pregnancy if both parents are known carriers of the impacted genes.
How do doctors diagnose sickle cell anemia in infants?
Most SCA instances are discovered by doctors during pregnancy or soon after delivery as part of a routine newborn screening. A sickle cell trait screen will be performed on a blood sample by your healthcare provider. If the screening results are positive, they could try to get more confirmation by a different blood test.
Additionally, invasive genetic testing methods such as amniocentesis or chorionic villus collection, as well as blood tests, can be used by medical professionals to diagnose SCA during pregnancy.
How do doctors treat sickle cell anemia in infants?
SCA is treated by physicians on an individual basis. The goal of treatment is to manage a patient's symptoms and shield them from potentially fatal infections.
Conservative treatment may involve taking precautions against excruciating bouts, such as avoiding extremely hot or cold temperatures, drinking enough water, and getting enough sleep.
As part of medical treatment, prescription drugs such as:
Through stem cell or bone marrow transplantation, certain children may be "cured." That being stated, not everyone should choose this course of action because it entails a high risk. Rather, it is saved for the worst cases of SCA that have not responded to previous therapies.
What’s the outlook for infants with sickle cell anemia?
SCA does not have a universal treatment. The good news is that survival rates have increased due to breakthroughs in medical care, including universal neonatal screening, vaccinations, prophylactic antibiotic therapy, and other interventions. In the US today, up to 95% of infants with SCA live to adulthood.
Sepsis, heart and lung problems and other health problems usually result in early death. Prolonged observation and therapy could enhance an individual's standard of living and avert these issues.
Takeaway
Serious blood disorders like SCA run in families. The likelihood is that a doctor will identify SCA in your child during the first year of life if they are born with it.
Patients with SCA can enjoy somewhat normal lives if they are diagnosed early, receive the right care, and are closely monitored. Furthermore, the prognosis keeps getting better thanks to ongoing studies and improvements in medical treatment.
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