A self-described sickle cell disease warrior, Mariah J. Scott, 33, fights through chronic pain of the disease every day, but that has not slowed her down to be a mom, advocate and student. Initially reluctant to share her diagnosis, Scott, of Highland Park, N.J., eventually embraced her role as an advocate, working with national organizations like Sick Cells as a patient ambassador.
Mariah is particularly passionate about supporting women with sickle cell disease during pregnancy, emphasizing that with the right medical care, starting a family is possible. She works with the Sickle Cell Reproductive Health Education Directive to advocate for high quality maternal health.
“I was told by my former ob-gyn that I shouldn’t have children,” Scott says. “It was devastating to hear that from my doctor, but I didn’t give up and now I have a healthy, beautiful daughter.”
Currently pursuing a PhD at Rutgers University in prevention science, Scott’s academic journey has been shaped by her personal experiences with sickle cell disease. She aims to advance research and advocacy, particularly in the areas of mental health, public policy and patient care.
Scott is one of thousands of Americans living with sickle cell disease. The genetic condition is estimated to affect about 100,000 people in the United States, according to the Centers for Disease Control and Prevention (CDC). The median life expectancy of people with sickle cell disease is between 42- and 47-years-old, according to the American Society of Hematology.
“The life span has definitely improved since the 1970s when most people didn’t make it to adulthood, but we still have a long way to go to improve longevity,” says Dr. Enrico Novelli, medical director of the UPMC Adult Sickle Cell Disease Program in Pittsburgh.
[READ: How Yoga Helps Reduce Acute and Chronic Pain]
What Is Sickle Cell Disease?
When round and smooth, red blood cells move easily through the body carrying oxygen from the lungs to vital organs. In sickle cell disease, red blood cells are shaped like sickles or crescent moons. These stiff, sticky cells catch on to each other and stick to the walls of the blood vessels, eventually blocking blood flow and oxygen.
Parts of the body — like the heart, lungs and kidneys — that don’t receive normal blood flow eventually become damaged. This leads to other health complications like anemia, pain and inflammation and stroke.
[SEE: 10 Symptoms of a Kidney Problem.]
How Do You Get Sickle Cell Disease?
Sickle cell disease is a hereditary condition passed on by parents, much like hair color and eye color. It’s not contagious like a virus.
People with sickle cell disease carry two genes from both parents of altered hemoglobin, a protein that allows red blood cells to carry oxygen to all parts of the body. Some individuals carry the sickle cell trait because they only have one mutated gene.
If one parent has sickle cell disease and the other carries the sickle cell trait, there’s a 50% chance of giving birth to a baby with either sickle cell disease or sickle cell traits. When both parents have a sickle cell trait they have a 25% chance of having a baby with sickle cell disease. Sickle cell disease is a recessive inherited condition because you need to inherit a mutated gene from each parent to develop it.
In Scott’s case, both of her parents carry the sickle cell trait without showing any symptoms and passed it to both of their daughters. Scott developed sickle cell disease, while her younger sister, also a carrier, did not. Scott’s daughter also carries the trait but has shown no symptoms.
[READ The Most Common Signs of Poor Circulation and How to Improve Them]
Who Gets the Disease?
Sickle cell disease is the most common inherited condition in the world, affecting 8 to 12 million people. It mainly affects families who originate from parts of the globe where malaria is common. These areas include:
— Sub-Saharan Africa
— Middle East
— Parts of India
— Caribbean
— Mediterranean countries like Italy, Greece and Turkey
Sickle cell disease affects these populations because having the sickle cell trait protects individuals from serious consequences of malaria, according to the Centers for Disease Control and Prevention. Of the 100,000 or so people in the U.S. affected by sickle cell disease, more than 90% are Black, according to CDC data.
Through national newborn screening guidelines implemented in all 50 states and the District of Columbia, babies are tested for sickle cell disease. About 2,000 babies are born with the disease each year in America, according to the American Academy of Pediatrics.
Types of Sickle Cell Disease
Sickle cell disease refers to a group of blood disorders caused by “sickled” hemoglobin. The specific type of sickle cell disease that someone has depends on the kind of hemoglobin, in addition to the inherited gene they receive from their parents.
The most common types of sickle cell disease include:
— Sickle cell anemia: This is the most common and severe form of sickle cell disease. People with this type inherit two sickle cell genes, one from each parent.
— Sickle hemoglobin-C disease: People with sickle hemoglobin-C disease inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. This is usually a milder form of sickle cell disease. Some people also inherit rarer types of hemoglobin D, E and O. The severity of these rarer types of sickle cell disease varies.
— Hemoglobin S–beta-thalassemia: When individuals are diagnosed with this form of sickle cell disease, they inherit one sickle cell gene from one parent and one gene for beta thalassemia from another parent. Beta thalassemia, a type of anemia, comes in two types: 0 and +. For those with beta-0 thalassemia, their condition is usually more severe, while beta+ thalassemia tends to be milder.
Treatment and Care
The main goal of treatment is to reduce painful episodes and prevent symptoms like anemia, swelling of feet and hands, frequent infections and vision problems — tiny blood vessels in the eyes can get stuck with sickle cells and cause retinal damage.
“The amount of research has significantly multiplied in the last few decades,” says Dr. Lewis Hsu, chief medical officer of the Sickle Cell Disease Association of America and director of pediatric sickle cell program at the University of Illinois in Chicago. “Within the past year, the FDA approved two new gene therapies to address the genetic mutation that causes the disease. There are several other gene therapies being studied that are at various stages of research.”
Gene therapy
The latest FDA-approved treatments for sickle cell disease are two groundbreaking gene therapies: Casgevy and Lyfgenia. Both therapies, approved on December 8, 2023, are approved for patients 12 and older with a history of chronic and severe pain and organ damage, called vaso-occlusive events.
Both gene therapies offer a one-time treatment that are made from modifying the patient’s own blood stem cells to produce healthy red blood cells, significantly reducing episodes of pain and improving quality of life. These two therapies use different approaches to modify or replace defective genes. Here are the main differences:
— Casgevy. Using a gene-editing technique, Casgevy edits a specific gene to boost fetal hemoglobin production and correct the genetic mutation.
— Lyfgenia. By delivering a modified version of the HBB gene into the stem cells, Lyfgenia produces a form of hemoglobin that helps prevent red blood cells from sickling.
Both gene therapies have demonstrated strong outcomes, reducing pain and hospitalizations by 95%. However, few patients have been able to access the treatments due to significant barriers imposed by health insurers, largely driven by their high cost. Casgevy is priced at $2.2 million for a one-time treatment and Lyfgenia is priced at $3.1 million, making them some of the highest priced drugs.
Are they worth the cost?
“We’re still waiting for long-term data to see how these therapies impact the silent damage caused by sickle cell disease, such as damage to organs like the kidneys, lungs, brain and bones that happens without pain,” Hsu says. “While early results are promising, it will take more time to know the full benefits.”
Standard treatment options
The following Food and Drug Administration-approved prescription medicines can help reduce and manage certain complications related to sickle cell disease:
— Hydroxyurea (Droxia, Hydrea, Siklos). Approved by the FDA in 1998, hydroxyurea has been shown in studies to reduce pain-related symptoms of sickle cell disease, the need for blood transfusions and hospitalizations. It does require monitoring for possible side effects, including low blood counts that may predispose one to infections and bleeding.
— L-glutamine oral powder (Endari). This medicine is approved to reduce acute complications of sickle cell disease in patients 5 years of age and older. In studies, this drug was shown to reduce hospitalizations due to pain episodes and shown to increase the time between pain symptoms. This medicine may cause some side effects such as constipation, nausea, headache, pain in stomach area and cough.
— Crizanlizumab (Adakveo). In 2019, the FDA approved this monthly IV biologic medicine to reduce the frequency of a vaso-occlusive crisis, or sickle cell crisis, such as acute episodes of pain. The medicine was approved for patients aged 16 years and older. Side effects may include nausea, joint pain, back pain, fever and infusion reactions.
— Voxelotor (Oxbryta). This oral medicine was approved in 2019 to improve anemia in people with sickle cell disease. Hypersensitivity reactions were the most commonly reported side effect following treatment. Other side effects may include generalized rash, mild shortness of breath and mild facial swelling.
Non-medication options
In addition to medications, there are two approaches that are usually recommended for those with severe cases of sickle cell disease.
— Blood transfusions. During a blood transfusion, normal red blood cells are added to increase the supply of oxygen to all parts of the body. Blood transfusions are particularly common among those with severe anemia. Sickle cell crisis can lead to kidney damage. Anemia related to kidney failure is best treated by replacing the hormone the kidneys are supposed to make (erythropoietin) and not by regular transfusions. Stroke prevention can require monthly transfusions. Exchange transfusions are preferred to avoid iron overload for patients.
— Stem cell transplant. During this procedure, bone marrow is replaced with healthy bone marrow from a donor, usually a sibling who does not live with sickle cell disease. There may be serious complications related to stem cell transplants, and there’s a long recovery period so these procedures are usually reserved for those with severe cases. It’s not surgery. Hsu notes that more than 1,700 stem cell transplants have been performed throughout the world.
Diagnosis
The diagnosis process for sickle cell disease typically involves a combination of screening, blood tests and genetic testing to identify the abnormal hemoglobin responsible for the disease.
— Newborn Screening. Sickle cell disease is usually diagnosed at birth through newborn screening, which typically happens within the first days after a baby is born. A small blood sample is taken from the baby’s heel and tested for various genetic disorders, including sickle cell disease.
“Early detection through newborn screening allows for early diagnosis, even before symptoms appear, which is crucial for initiating preventive care like vaccinations and antibiotics to prevent infections,” Hsu says.
— Blood tests. When sickle cell disease is not detected during newborn screening, or if someone is suspected of having the disease later in life, further blood tests can confirm the diagnosis. Hemoglobin electrophoresis test separates the different types of hemoglobin in the blood and can detect the presence of hemoglobin S, which is responsible for sickle cell disease.
— Complete blood count. This method may show signs consistent with sickle cell disease, such as low hemoglobin (anemia) and abnormal red blood cells.
— Sickle cell solubility test. This test checks for the presence of HbS. However, it only confirms sickle cell trait or disease, so further testing like electrophoresis is needed to distinguish between the two.
— Genetic testing. DNA tests can confirm the diagnosis by identifying mutations in the HBB gene, which codes for the beta-globin chain of hemoglobin. This test is often used for prenatal diagnosis or to clarify ambiguous results from hemoglobin electrophoresis.
— Prenatal testing. For expectant parents who may carry the sickle cell trait or have a family history of the disease, amniocentesis or chorionic villus sampling can be performed to diagnose sickle cell disease in a fetus.
Survival and Prognosis
The survival of young children diagnosed with sickle cell disease has significantly improved since the 1970s, says Novelli. More than 98% of children with sickle cell disease live to become adults, according to a study published in the journal Blood. Improved survival rates are attributed to national newborn screening, early treatment with penicillin and effective vaccinations against flu and pneumonia.
Children with sickle cell anemia might receive penicillin between the ages of about 2 months old until at least age 5. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to children with sickle cell anemia.
[READ: Kidney Function Tests: Purpose, Types and Procedure.]
Which Doctors Should I See for Sickle Cell Disease?
With most sickle cell disease cases being detected in newborns, pediatric hematologists primarily care for this patient population. However, sickle cell disease can damage multiple organs requiring specialized care from different specialists. These are the key doctors who provide care to the sickle cell community:
— Hematologists. These are the primary specialists for managing sickle cell disease. Hematologists specialize in blood disorders and are responsible for overseeing treatment plans, managing complications like chronic pain and overseeing proper blood transfusions and medication management. Pediatric hematologists significantly outnumber adult hematologists, making the transition to adult care challenging for many patients as they seek qualified doctors to continue managing their condition.
— Primary Care Physicians. General practitioners, such as family doctors or internists, provide routine care, preventive services, and coordinate with specialists to manage overall health and non-hematological issues.
— Pediatricians. For children with sickle cell disease, pediatricians are often involved, especially early on, to monitor growth and development and ensure proper vaccinations and preventive care.
— Genetic specialists. Since sickle cell disease is a genetic disorder, geneticists or genetic counselors may be involved to help individuals and families understand the condition and the risk of passing it on to offspring.
— Pain management specialists. Because pain crises are a hallmark of sickle cell disease, pain specialists are often brought in to help manage chronic and acute pain through various interventions, including medications, physical therapy and sometimes nerve blocks.
— Pulmonologists. Sickle cell disease can lead to lung complications such as acute chest syndrome and pulmonary hypertension. Pulmonologists specialize in lung-related issues and are crucial in managing these complications.
— Cardiologists. Since sickle cell disease can damage the heart, particularly through anemia-related stress and pulmonary high blood pressure, cardiologists are involved in monitoring and treating cardiovascular complications.
— Nephrologists. Kidney damage is a common complication. Nephrologists manage kidney-related issues, including proteinuria (protein in the urine) and chronic kidney disease.
— Neurologists. Stroke is a serious risk for those with sickle cell disease, particularly in children. Neurologists are involved in monitoring for and treating strokes, as well as managing neurological complications.
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What Is Sickle Cell Disease? originally appeared on usnews.com
Update 09/19/24: The story was previously published at an earlier date and has been updated with new information.
