Community News
New Sickle Cell miracle treatment will leave patients infertile
BY SIMONE J. SMITH
Imagine finding out that there was finally a cure for a disease that yourself, or your child has been living with for years. You learn about two new gene therapies that could cure sickle cell disease, and you feel a wave of relief.
Your child inherited blood disorder. By age five, they have had over 30 life-saving blood transfusions, and they have also lost hearing in their left ear. Though they are too young to get the treatments now – eligible patients must be 12 or older – you can begin to imagine a brighter future for them.
Then you learn about a significant drawback: patients who undergo the therapies must take a toxic drug that can leave them infertile. Unless they’re able to freeze their reproductive cells, a costly proposition, they’re forced to choose between freedom from a painful lifelong condition and having children someday.
Sickle cell disease is an inherited chronic disease that affects the shape of red blood cells. While normal red blood cells are round and pliable, individuals with sickle cell disease have some red blood cells that are rigid and shaped like sickles, or crescent moons. These sickle cells can slow down or block blood flow throughout the body.
According to Mayo Clinic, sickle cell disease symptoms often start around six months of age. Many symptoms occur because sickle-shaped cells block blood vessels, reducing circulation. Symptoms can include:
- Anemia
- Episodes of extreme pain
- Gallstones
- Swelling of hands and feet
- Frequent infections
- Delayed growth or puberty
- Vision problems
Left untreated, sickle cell disease can lead to serious medical complications, including: stroke, organ damage and blindness.
Asmaa Ferdjallah, M.D., M.P.H., a Mayo Clinic specialist in pediatric hematology and bone marrow transplants, says, “In the past, sickle cell disease was an exclusively fatal disease. Most kids didn’t survive into adulthood. Luckily, with today’s treatments, people with sickle cell disease can live long and rewarding lives,” Dr. Ferdjallah explains. “When individuals with sickle cell disease manage their disease with medication, their lifespan mirrors the average lifespan. Patients with sickle cell disease, even very severe sickle cell disease, are living far into adulthood — into their fifth and sixth decade, which was unheard of before.”
“Hydroxyurea is the single most important medication for sickle cell disease,” Dr. Ferdjallah says. “It’s on the World Health Organization’s list of essential medications. Hydroxyurea is a staple — a medication that must be taken daily and routinely.”
“Hydroxyurea was originally developed to be a form of chemotherapy for leukemia,” says Dr. Ferdjallah. “But one of the things that it also does is converts sickle cell hemoglobin into what we call ‘fetal hemoglobin’— the hemoglobin that we produced as babies inside our moms and until about six months of age. That type of hemoglobin does not sickle.”
She continues, “We learned about the benefits of fetal hemoglobin by studying kids with a condition called ‘hereditary persistence of fetal hemoglobin (HPFH)’ — a phenomenon where kids are born with a mutation in the beta-globin gene. They just naturally make a lot of fetal hemoglobin. Some of those kids co-inherit sickle cell disease, but they have almost no clinical symptoms of sickle cell disease. That’s because they’re producing enough fetal hemoglobin to counteract the sickling.”
“The final option, which is easily the most exciting, is gene therapy,” says Dr. Ferdjallah. “With gene therapy, you actually collect the patient’s stem cells which are then genetically altered to modify the gene that makes the sickle cell hemoglobin or hyper-activate the creation of fetal hemoglobin.”
“Then, stem cells get infused in your body, and the body recognizes the cells as your cells. It’s like you fixed your own genetic mutation. You don’t need foreign cells [from a donor] in your body. That completely decreases morbidity and mortality. It’s a great solution.” At the time of this interview (July 2023) gene therapy was still in the process of becoming FDA-approved.
In December 2023, The Food and Drug Administration approved a powerful treatment for sickle cell disease, a devastating illness that affects more than 100,000 Americans, the majority of whom are Black.
The therapy, called Casgevy, from Vertex Pharmaceuticals and CRISPR Therapeutics, is the first medicine to be approved in the United States that uses the gene-editing tool CRISPR, which won its inventors the Nobel Prize in chemistry in 2020.
The approval marks the first of two potential breakthroughs for the inherited blood disorder. The FDA also approved a second treatment for sickle cell disease, called Lyfgenia, a gene therapy from drugmaker Bluebird Bio. Both treatments work by genetically modifying a patient’s own stem cells.
“For some, getting a treatment that could leave them unable to have children is a huge concern,” said Dr Lewis Hsu, Chief Medical Officer of the Sickle Cell Disease Association of America.
“The new therapy is extremely expensive — $2.2 million per patient,” Vertex said. The pricing strategy, experts argue, may place it out of reach for many families. What’s more, that price doesn’t include the cost of care associated with the treatment, like a stay in the hospital or chemotherapy.
Now, we cannot forget that for years, the distrust among many African individuals towards medicine, and research, particularly concerning treatments impacting fertility, stems from a long history of systemic racism and exploitation within the healthcare system.
Historical atrocities such as the Tuskegee Syphilis Study, where Black men were left untreated for syphilis without their informed consent, and the exploitation of Henrietta Lacks’ cells without her or her family’s knowledge, have left a legacy of suspicion and mistrust.
Concerns about fertility treatments often intersect with fears of reproductive coercion, or sterilization campaigns that have disproportionately targeted marginalized communities in the past. Thus, rebuilding trust requires acknowledging this history, engaging with communities transparently, addressing current inequities, and ensuring that medical practices are ethical, inclusive, and centered on informed consent and autonomy. Without such efforts, the legacy of mistrust will persist, hindering efforts to improve health outcomes for African individuals and communities.
So I have questions for individuals who suffer with sickle cell anemia; is this treatment worth it? Would you give up having children to have a relatively healthy life?
REFERENCES:
https://www.mayoclinic.org/biographies/ferdjallah-asmaa-m-d-m-p-h/bio-20518146
https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
https://www.businesstimes.com.sg/lifestyle/be-cured-or-have-kids-tough-choice-sickle-cell-patients
https://mcpress.mayoclinic.org/parenting/can-sickle-cell-disease-be-cured/