Sickle Cell Anemia Might Be Detected from Saliva Samples, Study Suggests

A recent study suggests that sickle cell anemia (SCA) can be detected by a test using samples collected from inside the mouth of patients. This test allows for the detection of micronucleus, a deficient-looking cell nucleus that shows up in cells from a defective process of cell multiplication.

The study, “Buccal Micronucleus Cytome Assay in Sickle Cell Disease,” was published in the Journal of Clinical and Diagnostic Research, by Mallika Naga, PhD, and colleagues from the MNR Dental College & Hospital of Telangana, India.

These micronuclei are viewed as signs of genome instability and have been previously used as  biomarkers of the genetic damage caused by certain conditions, such as smoking, nutritional deficiency from alcohol dependence, exposure to pollution, or inherited genetic defects in the process of DNA repair.

To investigate whether the diagnosis of SCA could be associated with the presence of micronuclei, researchers collected saliva samples, which contains cells from the oral mucosa (the interior walls of the mouth), from 40 SCA patients and 40 healthy subjects matched by gender and age.

The inclusion criteria included the diagnosis of SCA and good oral hygiene. People not included in the study included those with severe jaundice and hemolytic anemia, chronic smokers, alcoholics, children who used mouthwashes, wore orthodontic braces, or who presented lesions in their oral mucosa, and patients with signs of physical or mental abnormalities.

“The current study showed an increase in micronuclei and nuclear anomalies like binuclei, nuclear bud, pyknosis (dying cells) and karyolysis (cell death) in SCA patients when compared with controls,” the authors wrote in their report.

Despite the results indicating that micronuclei can be associated with the presence of the disease, it is not clear how SCA is linked to lesions in the oral mucosa cells. Several reasons were suggested by the study’s authors, such as increased oxidative stress that leads to DNA damage and, therefore, to the formation of micronuclei.

The high concentration of iron observed in the plasma of SCA patients can contribute to this increase in oxidative stress, and then to DNA instability. Also, deficient levels of folic acid and vitamin B12 in these patients can also account for changes in DNA integrity, as these nutrients play an important role in maintaining chromosome stability.

The study’s results led the team to conclude that “the nuclear abnormalities evident in [oral] mucosa cells may help in effective monitoring and treatment outcomes in patients with SCA.”