An estimated 100,000 Americans are living with sickle cell disease, a disease that one in 400 African Americans is born with.   Thanks to new and aggressive treatment, the live expectancy and quality of life for people with sickle cell disease has improved immensely.   In 1976, the life expectancy for patients with sickle cell disease was 18; now it’s 44, and that number is improving rapidly.

“Sickle cell disease is caused by a series of genetic mutations to the hemoglobin gene, the protein in red blood cells that carries oxygen to tissues around the body,” says Dr. Jeffrey Glassberg,  assistant professor of emergency medicine, hematology and medical oncology at Mount Sinai.  “Everyone with sickle cell disease has received a genetic mutation from both the mother and the father, and people with sickle cell anemia have received the most severe mutation from both parents. If you inherit the mutation from only one parent, then you won’t have the disease, but you could pass on that mutation to your children.”

Patients with sickle cell disease can present with a range of symptoms. “Because the blood travels to every part of the body, patients can experience symptoms everywhere — things like lung infections, bone damage, and even stroke,” says Glassberg. “The main symptom is excruciating pain attacks, or pain episodes. Treatment for sickle cell pain hasn’t changed in decades. Funding for research is desperately needed.”

Signs and symptoms:

One of the greatest developments in the fight against sickle cell disease is newborn screening. “For people born in the U.S., you find out when you’re born, which is one of the biggest factors helping Americans live so much better and longer with this disease,” says Glassberg. “Getting a proper diagnosis and treatment from day one really helps.”

Sickle cell patients usually have no symptoms for the first six months of life, because at that point the body is still making fetal hemoglobin. “Then around 9 months, the body has switched over to adult hemoglobin, and babies can start to get attacks of pain in random parts of the body,” says Glassberg. “Their hands will swell up, and they are very prone to infections.”

Adults can have a range of symptoms. “Many people experience pain as their main symptom — sometimes it’s pain that comes and goes and comes and goes, while other times it follows a trigger, like stress, hot or cold, or dehydration,” says Glassberg. “People often rate the pain of sickle cell disease as worse than labor, or worse than having your bones broken — in severe cases, it can be excruciating.”

Traditional treatment:

The mainstay of sickle cell disease is a medication called hydroxurea. “This is the one FDA-approved drug for sickle cell disease,” says Glassberg. “It works in many ways, including by tricking people’s bodies into making fetal hemoglobin instead of adult hemoglobin.”

In the past, hydroxyurea was reserved for patients with very severe disease. “Since then, studies have found that hydroxyurea helps patients live longer and have fewer pain crises,” says Glassberg. “The big children’s hospitals like St. Jude’s are now putting babies on hydroxurea starting at nine months — the thinking is that the body will suffer less damage if we can start kids early on this medicine.”

“Hydroxyurea is really for everybody with sickle cell disease,” says Glassberg. “We think there will be another jump in life expectancy, now that we’re starting kids on this medicine in early life.”

Historically, some patients have been hesitant to try hydroxyurea. “There’s still some stigma with the drug because it started out as a chemotherapy and some of the side affects you can read online sound frightening,” says Glassberg. “But now that we have 40 years of experience prescribing the drug, we know that it has tremendous benefits and low risk.”

There is also the possibility of curing sickle cell disease with bone-marrow transplant. “Most bone marrow transplants are done in kids, and you need to find a match,” says Glassberg. “Many people can’t find matches, or aren’t eligible for other reasons. There’s lots of research being done to come up with alternatives for patients who don’t have a bone-marrow match.”

Another angle of sickle cell disease treatment is treating any other health conditions. “Really good sickle cell care is all about going through every part of the body and optimizing care,” says Glassberg. “For instance, sleep apnea is very common in people with sickle cell disease, and we’ve found that treating sleep apnea brings other benefits like improving heart function and decreasing pain episodes””

Research breakthroughs:

Doctors are working hard to develop better and better treatments for sickle cell disease. “There’s some really promising work being done in gene therapy, which changes the sickle cell mutation in your bone marrow and then puts the cells back into your body,” says Glassberg. “This work is in the very early phases of human testing, so it’s not quite a breakthrough as yet.

By the numbers:

• An estimated 100,000 Americans are living with sickle cell disease
• One in 400 African-American babies has sickle cell disease; one in 8.5 is a carrier of sickle cell trait
• About one in 3,500 Hispanic children has sickle cell disease