Sickle cell anemia is the most severe form of sickle cell disease (SCD). Child sickle cell anemia occurs when a child has a lower level of healthy red blood cells than expected. The condition is present from birth, though symptoms do not appear in early infancy.
SCD is a group of genetic disorders that cause abnormal hemoglobin proteins in red blood cells. As symptoms begin to appear, a child may experience complications that range from mild to life threatening.
Managing SCD requires early diagnosis, a healthy lifestyle, and quality medical care from a hematologist and other sickle cell experts.
Read on to learn more about child sickle cell anemia, including causes, treatment, and diagnosis of the condition.
Sickle cell anemia, a form of SCD, occurs when a person has fewer healthy blood cells than expected. There are also other forms of this disease, but sickle cell anemia is the most common.
It occurs when a person inherits two copies of an S protein gene, HbSS. This gene produces an abnormal form of hemoglobin, which causes red blood cells to sickle and become rigid.
In a child with SCD, the red blood cells become hard and sticky. The structure of red blood cells also changes and looks like a sickle — a farm tool — or the letter C. Doctors call these cells “sickle cells.”
Sickle cells clump together and cannot move through blood vessels as easily as typical red blood cells would. As a result, blood flow becomes blocked and causes pain to the child.
Sickle cells also die quicker than typical red blood cells would and can cause damage to the spleen, an organ responsible for filtering out infection from blood. As a result, the child may be more prone to serious infection.
SCD is purely a
Sickle cell anemia is usually the most severe form of the disease. It occurs when a person inherits two copies of a gene that codes for hemoglobin “S,” an abnormal form of hemoglobin.
Other types of SCD involve inheriting one S protein gene and a different gene for another atypical type of hemoglobin.
However, lifestyle and health factors may influence how severe a person’s symptoms are. For example, areas with a high altitude make it more difficult for the body to take in oxygen, which may exacerbate symptoms.
Sickle cell trait
Children may inherit just one copy of a gene with a sickle cell mutation from one parent. When this happens, they have sickle cell trait, which means they are carriers of SCD and may pass the condition on to future generations.
Sickle cell trait
How can a child have sickle cell anemia if neither parent has it?
A child can have sickle cell anemia even if neither parent has the condition. This happens when both parents have sickle cell trait, meaning they are carriers of SCD, and each passes one mutated gene onto their child.
Increased testing of newborns means that parents likely know if they are carriers.
However, it is possible to be a carrier and not know, especially if a person:
- never took a test
- does not have a history of SCD in their family
- was adopted and does not know their family history
Any child can be born with SCD. However, the condition is much more common in areas with high exposure to malaria.
Researchers believe that the sickle cell trait may offer significant protection against malaria. A person born in regions with high malaria levels or who descended from people born in these regions
- sub-Saharan Africa
- the Mediterranean
- the Middle East
- South Asia
Babies do not show symptoms during the first
Symptoms tend to appear as babies get older and sickling red blood cells stick together. This can cause blood clots and blood flow problems and make it difficult for the blood to carry oxygen throughout the body.
Symptoms of SCD include episodes of pain, which doctors may refer to as pain crises, and anemia.
Signs of anemia include:
- paleness of skin, lips, or nailbeds
- feeling tired
- shortness of breath
- trouble paying attention
Other aspects of diagnosis might include taking a family history and physical examination. A doctor may also order further hemoglobin testing, such as electrophoresis. This uses an electrical current to move molecules in RBCs through a gel based on their size and electrical charge.
A drop of blood from a heel prick can show a person has abnormal hemoglobin protein. This screening can also identify the type of SCD a child has. For example, a child with sickle cell anemia will have two copies of the HbSS gene.
A child who does not undergo the newborn screening may get a diagnosis later, during routine blood work at a medical appointment. Diagnosis during adulthood is not typical, as survival into adulthood is unlikely without treatment.
Treatment focuses on managing symptoms as they appear and preventing them from worsening.
Doctors may recommend a treatment plan that includes:
- making sure the child has all their immunizations
- antibiotics for preventing infection
- iron supplementation
- pain relief medications
- regular eye examinations
Some medications they may prescribe include:
- Hydroxyurea: This drug helps with managing painful episodes.
- Voxelator (Oxbryta): This helps reduce the sickling of blood cells.
- Crizanlizumab (Adakveo): This IV medication helps make red blood cells slippery.
- L-glutamine: This oral medication reduces pain.
People may also receive blood transfusions in cases of severe anemia.
Management may depend on the severity of the condition, the type of SCD, how frequently the child experiences complications, and how closely caregivers and children follow preventive measures. Caregivers helping their child follow a healthy lifestyle may help reduce some effects of the disease.
However, it may not always be possible to fully prevent a complication from occurring.
SCD can affect virtually every aspect of health and development. Common complications
- kidney damage
- acute chest syndrome
- blood clots
- dangerously low hemoglobin
- vision issues
- damage to the hands and feet
- pulmonary hypertension
Caregivers should explain SCD to their child in age-appropriate terms.
This may involve letting the child know that the condition is not their fault, that they will need ongoing medical care, and that there are things they can do to improve and protect their own health.
Some strategies to help a child live with SCD include:
- enrolling them in a sickle cell program at a hospital or clinic that regularly treats children with sickle cell anemia
- helping them find a support group
- pointing out role models with SCD, such as celebrities Miles Davis and Santonio Holmes, as evidence that the condition does not have to undermine a full and enriched life
- encouraging older children to begin managing their condition by giving them input into treatment and a chance to ask their doctor questions
When to call a doctor
Caregivers of children with SCD should work with a doctor who specializes in treating this condition in children.
A person should contact a doctor if:
- a child’s symptoms get worse
- a child experiences complications from treatment
- a child seems ill or in pain
- a baby’s development is not on track
If a child has intense pain or trouble breathing, caregivers should immediately take them to the emergency room.
Caregivers of children with child sickle cell anemia may worry that the future is uncertain. However, with appropriate medical care, children can and do live healthy, long lives with this condition.
Comprehensive newborn screening is critical to diagnosing SCD. After that, parents or caregivers should seek care from a hematologist with expertise in sickle cell.