Sickle Cell Disease Still Tends to Be Overlooked

Wow. I'm doing a reasearch on Endari and Sickle Cell Anemia, and I'm pretty shocked to find all this out. Thanks for writing the article. I'm sure lots of people will get to know about what's really happening about SCA.

As a sufferer of cystic fibrosis, I am ashamed how how little attention sickle cell anemia (and other diseases affecting the African American community, like lupus) gets. Cystic fibrosis is most common in Western European and Ashkenazi people. It also affects male fertility. I've felt for a long time that my condition gets as much attention and funding as it does because it is a white person's disease, and specifically affects white male fertility. I'm alive today because of medical innovation and people of color deserve the same- nothing less.

Thank you for this article. The failure of CMS to include quality measures fir SCD is a profound disappointment to those of us who have worked to develop standards, and lets down a group of families who need support. Research is important but implementing research findings is transformative.

Dr Carroll thanks for focusing on sickle cell disease a genetic disorder with devastating results in many individuals and families . The excruciatingly painful events are just the tip of the iceberg. The most consequential squeal is clinical as well as sub-clinical stroke which affects about a quarter of individuals with the disease leading to cognitive deficit and behavioral problems affecting school achievements and followed later by difficulties in employment. The use of preventive antibiotics and screening for stroke in children as well as the use of hydroxyurea have contributed to the improvement in quality of life and life expectancy of patients with sickle cell anemia. While the care of children with sickle cell has improved significantly using evidence based treatment especially in academic center of big cities, the care in small community hospitals in mostly rural areas is inadequate. Many primary care physicians and hematologists caring for adults with sickle cell do not have the updated knowledge or the interest in managing such patients. To many there is the mistaken perception that sickle cell patients are dependent on opiates and their role is just managing addiction. The medical home model sponsored and funded by Health Resources and Services Administration (HRSA) creating a network of services for diseases like sickle cell is the best approach. It makes modern evidenced based management available for the majority if not all patients.

The article states that sickle cell disease affects about 100,000 Americans, that is about 0.03% of the US population; the incidence of cystic fibrosis is even less, about 0.01% of the US population. Both of these diseases, along with many others, are considered rare or “orphans,” so small in number nation-wide or world-wide that there is not a large enough market to entice pharmaceutical manufacturers and other profit-making entities to invest in finding and providing a treatment or cure. This makes it necessary for governments, foundations and individual donors to fill the funding gaps, especially for research. Given that large numbers of Americans do not even have basic health coverage, it seems likely that rare/orphan diseases will continue to be underfunded by the US government because the constituencies and advocates for any single rare disease are so small in number. The solution would seem to be not to focus on a single disease like sickle cell anemia but to combine efforts and seek funding for a “package” of rare diseases that will engage a much larger combined constituency than any single disease can.

The author says "there’s no national registry for sickle cell disease". Are there registries for other diseases? How do they work? What is the goal or theory behind them?

We only talk about the disease. No one talk about Sickle Cell carriers! Awareness! Informing young adults about the risks of genetic transmission would help in controlling the disease. Explain why it happens. Reduction of the mean age of survival to less than 40 years is incredible in a developed country. Look at what has been done in the Mediterranean countries to control thalassemia.

I happened to learn a little bit about the Sickle Cell last time. And what I learned is that it's a mutation that causes an abnormality in DNA, the main body of the gene. When I read the book, I thought it was curable, but I'm a little shocked because it's still not curable. Doctors should develop the cure as soon as possible, the country will also apply for the research.

Unfortunately, there is some misinformation at the beginning of this article. Sibling matched bone marrow transplantation is curative in over 95% of children with SCD. Rejection drugs are not needed for life and often discontinued after 3-6 months. Additionally, mismatched (parent to child) (Haploidentical) are now being performed with a 90% success rate. That being said, the article is correct that this is a very over looked genetic disease that deserves more resources and more attention.

As relatively healthy young adult with CF I can say that the massive surge in research and drug development for my disease has greatly improved my quality and length of life. Funding for rare diseases shouldn’t be a war for dollars, but a united coalition fighting for those living with rare diseases. Until patient groups both rich and poor, (largely) black and (largely) white band together, it is unlikely that the underserved will get what I luckily received, a fighting chance. If you’ve got the means to, please support cff.org and fscdr.org.

This article, and attention to disparities in sickle cell funding and the harm this causes society is long overdue. When I worked at the National Center for Birth Defects and Developmental Disabilities, part of CDC, I worked for the Division of Blood Disorders; ostensibly, our mission included public health initiatives for blood disorders such as sickle cell. In practice, however, there were very few efforts aimed at sickle cell. This is, quite simply, a matter of funding and social capital. In the 2014 omnibus funding bill, Congress apportioned millions of dollars for CDC programs on hemophilia, thalassemia, muscular dystrophy and Fragile X, all of which when combined affect about a third of the number of Americans affected by sickle cell. There were no funds directed for sickle cell initiatives. Sickle cell prevents individuals, mostly people of color, from fully participating in society and leads to extraordinarily high utilization of healthcare and public expenditure on care. Investment in public health approaches, such as surveillance and best practices, is a smart place to start. Reducing the invisibility of sickle cell patients in the general public is another. So glad this article was published.

Very informative article. The problems of ordinary mortals like us vanish into thin air when compared to the suffering sickle cell and other deadly diseases patients undergo on minute to minute basis. We magnify even minor problems as if they are life threatening whereas everyday is life and death for them. May God provide them enough strength and the much needed affection from their family members.

My daughter works at the AFLAC Cancer and Blood Disorders at Children’s Hospital. Sickle Cell is extremely painful. Many of the patients receive frequent blood transfusions. They then build up antibodies and need even rarer blood for transfusions. They are treated with pain medications as well to get them through these painful cycles. Many of the patients have less than stellar home situations. My thoughts to her sometimes are maybe do you think it It parental guilt for passing on a genetic disease. Her hospital has had success with bone marrow transplants. She has seen white patients with sickle cell anemia.

In 1984 I was a social worker in CPS New Orleans. One child in my caseload had sickle cell. I visited him in his hospital bed and I was greeted with his sharp cries of pain. I sat down in a chair and cried. His African physician entered the room and loudly encouraged my boy to focus on the cartoons on the TV in the room. I don't think I have ever felt so helpless in my life. I know that there is a way to control and limit this horrific disease. More must be done.

I was involved in a prenatal Sickle Cell testing program in the early 1970s. The genetic counselors that were sent out sometimes faced hostilities when they suggested the disease was more common in Blacks. There was denial that such a thing could even exist. The testing of both parents for carrier status proved less successful as the fathers were often not around. Prior to the state taking over the testing of newborns, the lab in which I worked developed a method of separating adult, fetal, and sickle hemoglobins using isoelectrofocusing on polyacrylamide gels. Earlier methods could not separate all three and were not useful newborns. When molecular genetics started in the late 1980s with the invention of PCR, attempts to test for Cystic Fibrosis began. This has proved rather complicated as there are now over 2,000 known mutations and the severity of the disease depends on which two mutations are inherited. However, most affected persons have one or two of about 36 mutations. Prenatal Tay Sachs Disease testing has virtually eliminated this invariably fatal condition in young children, though there is a form does not appear until early adulthood. This was accomplished by blood enzyme level testing invented in the late 1960s. The advent of rapid and inexpensive sequencing could potentially replace the earlier tests. This model of testing parents and fetuses is often held up as the ideal for reducing genetic diseases.

How is this overlooked, much less a race issue? A new drug, Endari, was approved two years ago. Stem cell transplants and CRISPR gene editing are being explored and evaluated. That seems like quite a bit of attention for disease that affects a pretty small portion of the population. Furthermore, if anything we should be reducing the number of children receiving "daily antibiotics" to reduce the "chance of infections and sepsis." Drug resistant bacteria is far, far more of a problem than sickle cell anemia. Already more than 99,000 Americans die each year of complications from antibacterial resistant infections. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378521/ And that number is only going to go up. Already we're seeing new strains of UTI infections that are antibiotic resistant as well as bacterial STIs that are antibiotic resistance. We're getting increasingly close a point when we won't have antibiotics at all because everything has mutated to resist our current drug arsenal. So instead of playing the race card, we should be preparing for the next big epidemic outbreak which could touch all races. Given the many more common and serious diseases and conditions affecting the human population than sickle cell disease it seems the new treatments and therapies are more than sufficient relatively to the threat it poses.

I'm a 29 year old black woman and I am one of those 100,000 who has Sickle Cell disease. I find the suggestion that parents who give their children the illness are somehow responsible for not getting themselves 'tested' is also in itself racist. Why should African Americans walk around with a paper copy of their genetic bloodlines every time they fall in love with another black person to prevent an illness? Illness creeps through everyone's DNA and bloodlines so why should not all 7 billion of us not walk around with our potential deadly inheritances? Don't make this another lecture to black people about how we live our lives and how we should behave like this county does everything else. "Maybe you blacks should stop having babies out of wedlock. Maybe you blacks should stop living in bad neighborhoods. Maybe you blacks should eat better and stop doing all that weed and take care of yourselves." It's racist and judgemental and does nothing to help those little kids like I was to live a pain free and fruitful life.

All states have newborn screening, which detects sickle cell trait as well as disease, the results are usually sent to hospitals and the doctors. Not all states notify the parent directly. Informational pamphlets about sickle trait are poorly written, giving little information, often implying there is nothing to worry about. NYS newborn screening says no further action is needed after a sickle cell trait diagnosis. There is no program aimed at giving the necessary sickle trait information to adolescents, for whom it would be most effective. The American Academy of Pediatrics ought to have a guideline to give that information during every adolescent visit. Proper knowledge would allow teens with trait to at least think about this with a future partner. If it was taught early enough, it would be very natural. There has been no change in the incidence of sickle cell disease births in the U.S. and by 2050 the sickle population in the world will be 30% higher. NYS has 250 sickle cell births every year, 2/3 in NYC, and very often they are born to parents who did not know they each carried the trait. The NYC Board of Health, hopefully will have an initiative, using mobile trucks, school and community center venues to get the word out about trait. Moreover, people with sickle trait can have serious medical conditions including fatal kidney cancers (renal medullary carcinoma). All teens need to do is ASK someone they trust if they have the trait, knowledge is power.

I'd add a couple of comments from the perspective of a pediatric hematologist. Firstly, it is important for newborns diagnosed with sickle cell disease to be referred to a centre with expertise in managing this condition. The care provided at such centers is much more likely to adhere to guidelines for SCD developed by the NIH. Secondly, there is a critical need for physicians trained to care for adult patients with SCD. Survival to early adulthood is now well over 95% in the United States but declines rapidly afterward, in part due to poor access to expert care outside the pediatric setting. Finally, it is important to highlight how much better things have gotten in the recent past and how much hope there is for the near future. Penicillin in early childhood, hydroxyurea, and screening for stroke risk have all altered the manifestation of SCD tremendously in the past 10-20 years, and there are numerous new treatments on the cusp of approval by the FDA, including potentially curative ones such as retrovirus-based gene therapy. It will be critical, in addition to all of these technological developments, to expand access to comprehensive health care so that patients with SCD can actually benefit from these promising new treatments. And we should never forget the vast majority of people with SCD who live in countries with minimal health care infrastructure and for whom these treatments will remain out of reach unless we advocate forcefully for them.

There is enormous social influence of all kinds on the types of investments in medical research. A notorious one is HIV/AIDS, even after major breakthroughs in controlling disease commands a disproportionate amount of the NIH budget compared to many other infectious diseases. Breast and prostate cancer are also more supported than many other cancers. As long as public pressure plays a role in funding decisions, this will always be the case.

While the focus is on people how are homozygous for the sickle cell trait, there are medical complications for those who are heterozygous (i.e., 'carriers'). These include asthma, and sometimes when subjected to heat stress while exhausted- massive and sudden heart attacks and strokes. This is particularly true for young student athletes (re: football) in summer training camp. The impacts and possible treatments for those with the sickle cell trait, while not a dire as those with full blown sickle cell, should also be addressed.

I always thought that sickle cell disease only affected African Americans. I now know that it also affects Hispanics whose ancestors came from areas of the Mediterranean. I also found out that this wretched disease causes strokes to many at an early age.

There is a misstatement here. After stem cell transplantation, most patients can be tapered off immune suppressive drugs 2 - 5 years after transplant.

Sickle cell disease is 100% preventable. It is up to parents to take responsibility toward their future offspring. If both parents know they have the trait, they are giving their child a 25% risk of a painful, life-shortening disease. That's child abuse of the worst order. Parental sickle cell (SC) screening is universally available, quick, and inexpensive. Both parents can be easily be screened before conception at low cost. After conception, amnio or CVS can be used to detect disease in the fetus, allowing yet another chance for the parents to prevent a child's being damaged for life. Parental cystic fibrosis screening, unlike SC, is much more difficult and costly. To conserve money, often only one parent is blood-tested first, with the second being tested only if the first is positive for the trait. This process may create a greater economic barrier to preventing CF (as compared to a low economic barrier for preventing SC). The media could do a public service in alerting prospective parents to their responsibility in taking action early on behalf of their as-yet-unconceived children. If the media did so assiduously, thousands of children could be saved from the lifelong punishment of these nearly 100% preventable diseases.

Another case of racial discrimination in health care. A story as old as America itself. I’d love to hear the explanations from authorities about the differences in funding and attention for Sickle Cell and (far less common) Cystic fibrosis... The spin would be glorious.

Sickle Cell (SC) disease is completely preventable, if parents take proactive responsibility for their future children. If two people with SC trait decide to conceive a child, they are taking a 25% risk that the child will have a shortened lifetime filled with pain and suffering. The blood tests for SC are easy, inexpensive, and universally available. Post-conception amnio or CVS are also straightforward. With a proactive approach by responsible parents, we could have a generation of children free from SC disease. It is critical that all would-be parents at risk know about the 100% preventability of this disease. If the NYT wants to do some good, why not help prevent SC disease by publicizing the above facts more prominently? If doing so prevented even one future newborn child from having the disease, it would be worth it. Instead, just talking about funding inequities simply serves to stoke high-level political fires rather than solving grassroots problems. Cystic Fibrosis screening is much more expensive, but it is available, and responsible adults spend the extra money to make sure that their offspring will be spared from that disease. It is critical that all would-be parents, especially those in at-risk groups, know about their ability to prevent SC and CF diseases in their children, and their responsibility to so.

This article and the comments that follow illustrate a classic weakness of our system(s) of providing health care in the US. Administration of prophylactic antibiotics - a low cost measure which could be administered by primary care physicians [probably with assistance from ancillary staff] - is rejected, while the focus is shifted toward development of expensive and risky procedures, including stem cell transplants, gene modification and high tech drugs. These will only be available to a very small number of individuals under our current system of insurance-based care decisions. In a national health care system, improving the quality of life of the largest number of people with a chronic disease like sickle cell would be the first priority.

Thank you for this very important article. Racial disparities in disease research and treatment are very real. Fortunately, stem cell therapy for sickle cell disease is advancing. Loma Linda Children's University Hospital used a haploidentical stem cell transplant to cure an 11-year-old girl. The University of Illinois Hospital has also cured sickle cell with a stem cell transplant, using immuno-suppressive drugs and low-dose radiation. Saint Louis Children's Hospital offers a similar therapy. This use of stem cell therapy must be expanded, to include more patients and to include adult patients. We must also pressure insurance companies to cover it.

Thank you for the numbers. I have learned a lot about sickle cell disease in the last year through articles like this one. I am left with the question of what we, as citizens, can do to change this on a political level? Giving money directly will help, but the bulk of funding comes through the NIH.