Patients with fetal and neonatal alloimmune thrombocytopenia (FNAIT) may soon benefit from a new approach that uses next-generation sequencing (NGS) of platelet mitochondrial DNA (mtDNA) to track transfused platelets in their bodies, according to a study published recently in Blood Advances.
This technique enabled doctors to monitor transfusions even when patients received multiple platelet units or had diverse genetic backgrounds, which is essential in managing FNAIT and avoiding dangerous bleeding episodes.
“NGS-based mtDNA sequencing enables tracking of transfused and endogenous platelets,” explained this study’s authors. They continued, “This technique can be used regardless of the SNV [single nucleotide variant] distribution and can be used in the setting of multiple platelet transfusions.”
Traditional methods of evaluating success of platelet transfusions, such as corrected count increments, have limits, especially in patients with repeated transfusions. This new NGS-based strategy identified many single nucleotide variants in mtDNA to measure the proportion of transfused platelets accurately.
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This approach was validated in the lab by mixing platelet units from different donors in varying ratios, showing excellent agreement (r² > 0.99) from 1:1 to 1:50. It also worked reliably even when platelets were stored longer, indicating that storage time did not significantly change tracking results.
To confirm real-world use, researchers tested the method in 12 patients with blood cancers who received platelet transfusions. Some patients had just one unit, while others received up to five. Blood samples taken before and after transfusions revealed that this NGS approach could distinguish and measure platelets from multiple donors. For example, one patient received four different platelet units over five days, and the method successfully identified unique mtDNA markers for each.
Easier tracking even after multiple transfusions
Patients with FNAIT often face repeated platelet transfusions, which complicates evaluating transfusion effectiveness. This new method overcomes that challenge by directly measuring transfused platelets even after multiple transfusions. Clinicians can understand if platelet levels fall because the body destroys donor platelets or because the patient’s own platelets stay low. In some cases, low corrected count increments values were explained by a very small percentage of surviving transfused platelets rather than poor transfusion technique.
This method offers a more accurate way to evaluate platelet transfusions, guiding decisions in managing FNAIT and other conditions. By using mtDNA markers that account for ethnic differences and repeated transfusions, the method provides clearer information about how well transfusions work for each patient. As a result, families dealing with FNAIT may see safer, more effective treatment with fewer transfusion-related complications.
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