Most people don’t think about the red blood cells that are hard at work in their bodies every day. But pregnant women need to be aware of the hereditary illness called sickle cell disease.
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Sickle cell disease (SCD) affects the hemoglobin protein of red blood cells. Healthy red blood cells have a round shape and slide through blood vessels easily, carrying oxygen to every part of the body. The red blood cells in people with SCD become sticky and inflexible and change to a hard, sickle shape — like a crescent moon.
“Normal red blood cells have an oxygen-binding molecule in them called Hemoglobin A, but sickle cells have an abnormal hemoglobin known as Hemoglobin S,” explains pediatric hematologist Grace Onimoe, MD.
People with SCD (which is sometimes called sickle cell anemia) suffer from a constant shortage of red blood cells. Their abnormal blood cells get stuck in blood vessels, blocking blood flow. And the cells die faster than the body makes replacements.
Who is at risk?
SCD primarily affects people of African, Asian, Middle Eastern, and Mediterranean descent. In the U.S., it’s also more common among the Hispanic population.
It affects approximately one in every 500 African-American births and one in every 35,000 Hispanic births, Dr. Onimoe says.
How do babies get SCD?
A baby must inherit a gene for sickle cell from both parents to have SCD. This means both parents must carry a sickle cell trait to have a baby with SCD.
“Also, if one parent carries the sickle cell trait and the other carries another hemoglobin abnormality trait, such as Hemoglobin C or Beta-Thalassemia trait, these can combine, resulting in SCD,” Dr. Onimoe says.
How do you know if your baby has SCD?
Most states screen newborns for sickle cell disease and other inherited disorders.
Dr. Onimoe says that when this screening identifies a baby with SCD, the primary care doctor arranges a follow-up visit with a pediatric hematologist.
What signs do people with SCD exhibit?
People with the disorder begin to show signs of the disorder during the first 12 months of life.
“The primary symptom of sickle cell disease is pain,” Dr. Onimoe says. “Sickle cells not only carry less oxygen to tissues, but they also stick together and cause blockage of blood flow. This further deprives the organs and tissues of oxygen. Oxygen deprivation can cause damage to the brain, lungs, chest, spleen, bones and eyes. Pain can last from a few moments to several days.”
Dr. Onimoe says studies show that the more painful episodes a child experiences each year, the more likely the child will suffer long-term disabilities. Other signs of the condition include fatigue, breathlessness, rapid heart rate, delayed growth, yellow eyes or skin, and priapism (painful erections).
What is an SCD flare-up and why do they happen?
A sudden onset of painful symptoms is known as a flare-up. Infection, dehydration or stress and anxiety can cause flare-ups.
“When a patient has a flare-up, clinicians will assess and treat the problem. If the episode occurs after hours or on the weekend, the patient should visit the emergency room for assessment. ER physicians consult with the patient’s pediatric hematologist to develop a treatment plan and arrange close follow-up to ensure full recovery,” Dr. Onimoe says.
How is SCD treated and is there a cure?
There is no standard best treatment for SCD. Treatment depends on the individual and his or her disease’s severity.
“Parents of a child with SCD should seek treatment from an institution with a clinic that specializes in treating sickle cell and other inherited blood disorders,” Dr. Onimoe says. “These centers will assign a team of pediatric hematologists, nurse practitioners, registered nurses, social workers and child life specialists who collaborate to provide customized, comprehensive care.”
There is no cure for the disease, but sticking to a proactive treatment plan helps keep patients as healthy as possible. The goal is to minimize hospitalization and complications through preventive care and education.
“The SCD care team closely monitors patients for disease complications. Currently, hydroxyurea is the only FDA-approved SCD medication, but researchers are conducting clinical trials for other SCD drugs,” she says.
Parents with a child who has SCD must closely adhere to the care team’s action plan for managing symptoms. Poor adherence to this treatment plan increases the risk of severe complications or even death for SCD patients.
With close follow-up and rigorous compliance with a doctor’s treatment plan, people who have sickle cell disease can live fulfilling, fairly normal lives, Dr. Onimoe says.
Hope for a low-risk cure for SCD
Bone marrow or stem cell transplant represents the only known potential cure for sickle cell disease. This high-risk procedure can have serious side effects — even death. Therefore, physicians only use this in severe cases of SCD in children with minimal organ damage from the disorder.
Promising experimental treatments, gene therapy and other novel treatments bring hope for the future.