Life with sickle cell disease is often punctuated by hospital admissions and heartache. This disease is draining in many ways. It can be expensive to treat, commonly leads to chronic pain as well as an inability to work and is almost always accompanied by a shortened life expectancy.
Sickle cell disease affects all parts of the body, with the most painful symptoms occurring under conditions of low oxygen, for example while swimming in cold water. Those who live with this disease face regular bouts of pain and risk infection, acute chest syndrome and stroke.
According to Dr. Matthew Pridgeon, a pediatric hematology and oncology specialist at Helen DeVos Children's Hospital
, sickle cell disease patients are more and more frequently challenged by socio-economic hardships and other barriers to care. Insurance gaps, transportation issues, food security and other challenges not directly related to the condition can have larger impacts in the long term.
This genetic blood cell disorder affects more than 100,000 individuals in the United States and especially those of African American descent.
The American Society of Hematology
reports that up to 3 million Americans may have the sickle cell trait, including 8% to 10% of African Americans. Being a genetic disease, the offspring of any two people who carry the sickle cell disease trait but not the disease itself may still be born with the condition. According to data from the Centers for Disease Control and Prevention
, the disease now affects about one in every 365 African-American people in the United States.
Dr. Joshua Field
Treatment requires an understanding of hematology, pain management and social complexity, alongside a well-resourced program that can respond to blood needs. But, treatment specialists are not so common. Most adults in the U.S. are not cared for in a comprehensive clinic — they're cared for by their primary doctors, assuming they have consistent care at all, says Dr. Joshua Field, an associate medical director at the Versiti Blood Center of Wisconsin
and an assistant professor of medicine at the Medical College of Wisconsin
Dr. Field specializes in the treatment of sickle cell disease and other benign hematological disorders at Froedtert Hospital and Children’s Hospital of Wisconsin
, where he’s seen two years of the COVID-19 pandemic make living with sickle cell disease even more difficult for this population.
The disease causes COVID-19-like symptoms, clotting, strokes and severe oxygen deprivation. It is also one of the medical conditions that the Centers for Disease Control and Prevention
says puts people at higher risk for severe illness from the coronavirus. Researchers are currently studying if simply carrying the trait puts an individual at a higher risk of COVID-19. However, one of the biggest challenges the pandemic has put in the way of treatment is bringing critical blood donations to a halt in some communities.
The importance of blood
A typical healthy red blood cell is oval shaped and flexible, able to squeeze through small blood vessels while carrying oxygen throughout the body. Sickle cell disease causes red blood cells to polymerize into hardened sickle shapes that have a much harder time passing through blood vessels, eventually causing clogs that can stop blood flow completely.
Blood cells with sickle cell disease live only about 10 to 20 days, about one-sixth as long as healthy cells, according to Johns Hopkins Medicine
. This means that the bodies of sickle cell disease patients are working even harder to produce blood, hence the need for regular transfusions.
Up to 39% of children who live with the condition are likely to experience a “silent stroke” before they turn 18, the American Stroke Association
reports. These strokes are not always outwardly detectable and may not manifest in any physical weakness, though an MRI scan will show signs of the injury. When a sickle cell disease patient has a stroke, even a non-life threatening experience at a young age, the recommended therapy for preventing another stroke is monthly blood transfusions for life.
"There's no stopping point," Dr. Field says. "There hasn't been found to be a point of time at which you can stop and see that risk return to normal. You can imagine how much blood that takes."
Over a period of time, a patient’s body may also form a reaction against that blood by making antibodies. This is less common when a perfect match, containing the right expression of minor proteins, is available.
"It can get to a point where the patient has developed enough of these antibodies where it becomes a life-threatening situation and it's hard to even identify compatible units for them anywhere," Dr. Field says.
Blood donation squeeze
Increased blood donations in African American communities can help patients and the American Red Cross
renewed its campaigns to increase those donations in 2021. However, blood donations have slowed since early 2020 as a result of social distancing precautions aimed at reducing COVID-19 transmission.
This has put pressure on the blood banks that sickle cell disease patients rely on for regular transfusions.
"The blood supply has been strapped by the pandemic," Dr. Pridgeon says. "Spectrum Health and our blood bank and Versiti
have worked hard to meet those challenges."
Blood transfusions are a big part of care for acute pain from sickle cell disease. Dr. Pridgeon and his team are treating several patients currently on chronic blood transfusions. These patients receive blood transfusions typically every three weeks.
Apart from one case in which a portion of a large blood order was delayed for three days, Dr. Pridgeon says blood supply demands have not caused a delay in care for his patients.
There is a concern with finding well-matched donors for underrepresented populations. Blood that isn’t available from donors within the community can be ordered from other communities that may be a closer match, but that can also delay care for someone who may be in acute pain.
The risk of developing antibodies against new blood is always less when an exact match can be found.
“A young man was just transferred in who is on chronic blood transfusions,” Dr. Pridgeon says. “From talking to our blood bank, it sounds like we're always going to be ordering out his blood. We don't have that type as part of the local supplies.”
Health care systems want to make sure blood is available, even when a patient has developed antibodies to the point of being difficult to match. Meeting this need starts with having blood on hand days before treatment is necessary. According to Dr. Pridgeon, that process can be eased by an “overall increase in awareness and donations from African Americans and other ethnic groups.” It also requires coordination between hospitals, blood banks and coordinating organizations, like Versiti.
"Versiti needs over 10,000 Ro donations [per] year to care for the [sickle cell disease] patients we serve. Last year we collected around 12,000 and we know the demand is much higher," says Versiti Public Relations Manager Kristin Paltzer.
Last year, Versiti brought more attention to this need by introducing the Leaders for Life
programs in Michigan, recognizing students who give back to their community with a special cord at graduation, and giving schools the opportunity to earn self-directed scholarship funds by hosting blood drives with Versiti. The organization partnered with the diversity, equity and inclusion departments of Oakland University
, Madonna University
, Aquinas College
and Hope College
"We were able to increase diverse blood collection statewide with these partnerships and we look forward to continuing to grow the program," Paltzer says. "We have also been fortunate to work with the Sterling Heights Community Center
to establish two monthly blood drives with the focus to not only increase donations but [to] educate about the importance of a diverse blood supply and what that means for patients with diseases like sickle cell."
Hope for the future
Sickle cell disease is treatable but the most effective treatments are not always affordable, and the most affordable options are not always comfortable. It's also hard to live with the disease without regular treatment.
"Don't underestimate how sick people with sickle cell disease are and the challenges they face," says Dr. Field.
It's owing to that fact that some have opted for bone marrow transplants, which have more positive outcomes in children, Dr. Field says. This treatment is both expensive and potentially painful to experience, though more recent advancements have addressed the latter. Dr. Field says "a less intense form of chemotherapy" has been used to prepare patients for the treatment, making the transplant less painful.
Bone marrow transplants, which are not accessible to everyone, and hydroxyurea, which has its own uncomfortable side-effects, are no longer the only options. There have been three new drugs approved in the last four years — L-glutamine, a powder; crizanlizumab, an IV infusion; and voxelotor, a once-daily oral medicine. There are still some barriers to access, however.
"A challenge comes as everyone's dealing with the cost of new drugs," Dr. Field says. "They are very expensive. We're also dealing with how best to handle those financial costs."
For individuals looking to address financial challenges, reaching out to their insurance provider or directly to the prescription manufacturer regarding assistance could provide options. Additionally, there are other solutions that may be viable.
Where blood supplies have been stretched, the scope of potential blood donors for people with sickle cell disease has been expanded through the use of haploidentical, or half-match, donors. This allows blood from a sibling who otherwise might not be a match for a parent to be used in transfusion, Dr. Field says.
Gene therapy studies are also being investigated and could lead to new forms of treatment.
“I have some families that are very hopeful for that,” Dr. Pridgeon says. “There potentially could be less medical risks or side effects than what you see with a bone marrow transplant.”
Dr. Pridgeon says he has spoken to multiple patients about bone marrow transplants who said they would rather wait to see how these new treatments progress.
West Michigan does not have the same diversity in population as larger cities like Detroit and Chicago. It was in those cities that barriers to care for African Americans and minorities became clear during the onset of the COVID-19 pandemic. African Americans have faced a greater mortality rate
during the pandemic and lacked access to critical health care resources that have helped other predominantly white communities stay healthy.
These lessons should also be applied to sickle cell disease care, Dr Pridgeon says.
The availability of blood and access to new therapies is essential to sickle cell disease patient care today and in the future. But it will take greater consideration for chronically underserved populations to make the greatest impact in fighting this disease. In both cases, being aware of the challenges patients face and advocating for their needs will play a big role in making life easier for those who live with this disease and, maybe someday, without it.
Photos by Kristina Bird, Bird + Bird Studio
This series is underwritten by Spectrum Health.
Matthew Russell is a writer and maker living in West Michigan. Matthew has over 20 years of experience as a journalist for various newspapers and magazines in the Midwest, has been published in two books about Grand Rapids history, and is currently improving his skills as an amateur apiarist while building a sustainable microfarm.