Chronic immune thrombocytopenia (ITP) is a complex autoimmune disease characterised by low platelet count; this prevents the blood from properly clotting and increases risk of bleeding.

The risk of developing chronic ITP may be affected by genetic factors.

This study sought to identify genetic variants associated with susceptibility to chronic ITP and severity of ITP clinical condition.

Investigators obtained DNA samples through the North American Chronic ITP Registry and the Platelet Disorders Center at the Weill-Cornell Medical Center.

The majority of patients were younger than 19 years old at the time of diagnosis.

Whole exome sequencing (WES) was performed at the Human Genome Sequencing Center at Baylor College of Medicine as part of a study initiated by the ITP Consortium of North America.

Investigators used sophisticated analysis tools to identify genetic variants linked with chronic ITP.

Results demonstrate that variants in genes associated with immune cell signalling (including IFNA17 and DGCR141) are significantly more common in children with chronic ITP than in the healthy population.

Of 172 ITP patients, more than 45 percent had a coding variant in IFNA17, a gene associated with immune cell activity. In contrast, investigators found IFNA17 variants in fewer than 1 percent of 5,664 individuals without ITP.

This study is the first of its kind in chronic ITP, and these findings may facilitate improved understanding of the development of this disease.

Additionally, improved understanding of affected patients’ genetic changes could lead to more personalised approaches to treatment of this disorder.

Watch the press conference for more information.

Source: ASH