Sickle cell disease researcher and advocate Lanetta Bronté, MD, MPH, MSPH, was working in a hospital for years when she realized that she didn’t like what she saw in terms of the treatment of those with sickle cell disease. According to her, there weren’t regular physicians who wanted to take care of them and some were looked at as drug abusers, continuing to take medicine for a disease some felt was improving.
“This wouldn’t happen with any other disease. This would not occur,” she told me in an interview. “I had to go to the community and have a center in the community that addresses the entire family. It doesn’t just affect that person, it affects the entire family.”
Bronté went ahead and created the Foundation for Sickle Cell Disease Research in Florida to help those with sickle cell get better treatment and to make the disease a household name so it is heavily promoted.
“There is a lack research related to sickle cell disease,” she said. “With no registry of population data you’re never going to create policies and inform policymakers or politicians of what the issues are in terms of costs and what social resources are needed.”
Bronté is hoping to change that with her work and center, which is the only comprehensive sickle cell disease research and treatment center in the country. She filled us in with answers for all the questions we had about sickle cell disease that you should know about:
How You Get Sickle Cell Disease
There are lots of different types of hemoglobins. Hemoglobin A is the normal hemoglobin and we have two copies of those. Hemoglobin S is the sickle hemoglobin. If you have S, that means you have sickle cell disease. If you have A with S, then you have sickle cell traits. You can have hemoglobin with C, and that’s also sickle cell disease. So there are actually a lot of variants. It really depends on what parts of the world you’re from, that’s where we see the different variants.
How Sickle Cell Works
Because the cells are sickle due to mutations in the gene, they don’t live as long. A normal red blood cell lives 120 days. A sickle cell lives 12 days, so the person is anemic because that red blood cell is constantly dying and the bone marrow is working hard trying to put out cells.
The Importance of Knowing Your Status
Everyone should be aware of their sickle cell trait status. Now in the United States, all babies are screened at birth for the sickle cell gene. If they have two copies of the gene, there is a process through a federal mandate that babies identified as having sickle cell disease have to be placed into care within three months on penicillin prophylaxis. We have about four million individuals in the U.S. who have sickle cell traits as carriers, but most of them do not know. Some of it is because newborn screening is relatively new, starting around the mid-80s. The letters used to say that you have nothing to worry about, your baby has sickle cell traits, there life will be normal. We’re finding out now that that’s not necessarily true. There are very specific issues related to sickle cell traits. For instance, flying and diving. Those are some of the risks of having a child with sickle cell disease. So everything we do at my foundation is screening to do something about it.
The Prominence of the Sickle Gene and Its Origins
Parents are really shocked when they have a child with sickle cell disease, but the sickle gene is very prominent. About one out of 12 of us have the gene. It is a gene that originated in Africa, secondary to survival of the malaria parasite. It got over here to the United States and to the Caribbean and to Brazil because of the slave trade. That’s why African Americans have more sickle cell and you actually see the largest population of those with sickle cell in the South. That’s where African Americans were introduced to the United States. We have about 100,000 individuals with sickle cell in the U.S. and about 42,000 of those are in the Southeast.
How You Can Find Out Your Status
There is an easy spot test you can do. We offer free testing through the foundation. You can know if you’re a carrier, you and the person you want to have children with. It doesn’t mean you shouldn’t have a child together, but you want to know what your risk is of having a child with sickle cell disease and what your other options are. That includes pre-implantation genetic diagnosis. So you can select the egg or sperm that doesn’t have the mutation. There are ways to prevent having a child with sickle cell. However, that procedure, IVF, is expensive and insurance usually doesn’t cover it.
Where Things Stand With Possible Cures
Most of the gene therapy or stem cell transplants you hear about are clinical trials. We are seeing some success there. But the criteria to qualify for the trials are very tight. Again, there is a deficit in research dollars to increase the research to improve gene therapy and stem cell transplants. So what we have mostly now is palliative care: blood transfusions, IV fluids, pain medication. It’s really unacceptable. There is one FDA-approved drug for the disease, and it’s actually a cancer drug. It can improve quality of life but it doesn’t touch the mortality rate or age of death. Men typically don’t make it to age 50, women may live a little longer, 55 or so, and I have a patient who is 66, but it’s a disease where there’s a shortened lifespan. But we could do much, much better than we’re doing now.
If you live in Florida, you can help. On February 13, Bronté’s foundation is holding an event with Deepak Chopra to raise money for research. You can obtain more information about it here.