Mitchell Cairo, MD, Chief of Pediatric Hematology, Oncology and Stem Cell Transplantation at New York Medical College discusses his study at the 2018 American Society of Hematology (ASH) Annual Meeting in San Diego. Sickle cell disease is a group of inherited red blood cells disorders. People who have sickle cell disease have an abnormal protein in their red blood cells. In the United States, most people who have sickle cell disease are of African ancestry, but the condition is also common in people with a Hispanic background.

Early signs and symptoms of sickle cell disease include swelling of the hands and feet; symptoms of anemia, including fatigue, or extreme tiredness; and jaundice. Over time, sickle cell disease can lead to complications such as infections, delayed growth, and episodes of pain, called pain crises. Most children who have sickle cell disease are pain-free between crises, but adolescents and adults may also suffer with chronic, ongoing pain. Over a lifetime, sickle cell disease can harm a patient’s spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.

A blood and bone marrow transplant is currently the only cure for sickle cell disease, and only a small number of people who have sickle disease are able to have the transplant. There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being. Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person.

In his study presented at ASH, Dr. Cairo and colleagues performed transplants in 19 patients, age 3 to 20 years, with frequent or severe SCD symptoms, including 15 patients who received a transplant from their mothers and four who received a transplant from their fathers. Two years after the transplant, the researchers found that the patients experienced improved cardiovascular and neurological function as well as demonstrated improvements in health-related quality of life and were considered stable. The findings suggest that 90% of patients will go on to lead normal lives. This approach has the potentially to change the treatment of sickle cell disease and provide patients with the disease a viable and highly effective stem cell transplantation treatment option.

Dr. Cairo presented 3-year follow-up of this study, which showed there are no patients who have any signs of sickle cell disease and sickle symptoms. His study showed that myeloablative and haploidentical hematopoietic stem cell transplantation from parental donors that utilized CD34 enrichment and mononuclear cell addback significantly improved health-related quality of life and neurocognition of high-risk patients with sickle cell disease.

The study concluded that rapid hematological reconstitution, long-term stable white blood cell and red blood cell donor chimerism, stable to improved cardiac and pulmonary function, and low cumulative incidence of acute and chronic graft-versus-host disease.