NIH logoSickle cell disease is a genetic life-long blood disorder, identified by red blood cells in the blood. According to a study conducted within the NHLBI-supported Comprehensive Sickle Cell Center, sickle cell disease may affect brain function in adults facing few or mild complexities, of the congenital blood disease. The investigators compared the brain function scores and imaging tests in adult patients, with few sickle cell complications. The results were astonishing, as they were similar to adults who did not have the blood disease.

The authors announced that, the brain function scores in sickle cell patients were, on average, in the normal range. But, approximately 33 percent healthy patients, scored below normal levels. The participants who were more likely to score lower were older. They had the lowest levels of hemoglobin in red blood cells, when compared to sickle cell participants who scored higher. Hemoglobin is the protein in red blood cells and is responsible for carrying oxygen in the blood. However, the brain magnetic resonance imaging scans, were unable to give a reason for the differences in scores.

NHLBI Acting Director Susan B. Shurin, M.D, shared, “This study suggests that some adult patients who have sickle cell disease may develop cognitive problems, such as having difficulty organizing their thoughts, making decisions, or learning, even if they do not have severe complications such as stroke related to sickle cell disease. Such challenges can tremendously affect a patient’s quality of life, and we need to address these concerns as part of an overall approach to effectively managing sickle cell disease.”

The study authors at 12 sites conducted the study on 149 adult patients, suffering from sickle cell disease. All the participants were between the age group of 19 and 55 years. The authors examined the cognitive functioning of each of these participants. Their results were then compared to 47 healthy study participants. All the participants shared similar age and education levels and came from the same communities. All the participants were African-American.

Almost, all the sickle cell disease patients scored lower, on measures such as intellectual ability, short-term memory, processing speed, and attention, than participants in the healthy group. None of these patients had ever undergone an end-organ failure, stroke, high blood pressure, or other conditions that might otherwise affect brain function.

Elliott P. Vichinsky, M.D., of the Children’s Hospital & Research Center Oakland, principal investigator of the study and the lead author of the paper remarked, “We need to study whether existing therapies, such as blood transfusions, can help maintain brain function, or perhaps even reverse any loss of function. These effects were found in patients who have clinically mild sickle cell disease, which raises the question of whether therapies should be given to all patients to help prevent these problems from developing.”

The study authors further employed patients, with sickle cell disease in the study, to conclude whether or not blood transfusions may help preserve cognitive function. In case it is possible, then these patients may receive transfusions every three or four weeks for six months as part of the clinical study.

Approximately, 70,000 Americans, seem to face this aliment. Many children in the past have died from this disease. But today, there are various new and advanced therapies that help sickle cell disease patients to live well into middle age or beyond. Since, many people are surviving into adulthood, more thorough studies are being conducted, to uncover various complications of this disease.

Studies of brain function in children seem to suggest that, some children who have sickle cell disease have experienced silent brain injury, even though they have not suffered a stroke. While others, may experience some level of cognitive dysfunction, which may further worsen with age. A common complication that arises in this disease is stroke, which can probably lead to learning disabilities, lasting brain damage, long-term disability, paralysis, or death.

The investigators illustrated that, this disease includes an altered gene that apparently produces, abnormal hemoglobin. The C-shape of this sickle hemoglobin has very little oxygen and is very stiff and sticky. These crescent-shaped cells can probably, clump to block blood flow causing severe pain. They also have the potential of causing organ damage. It is claimed that in the United States, the disease mainly affects those of African descent. But, it has also been noted in other ethnic groups, including those of Hispanic and Middle Eastern descent.

The study is published in the May 12 issue of the Journal of the American Medical Association.