Molecular typing to personalise donor donation frequency

Pathology(2023)

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摘要
Blood donors can lose up to 200–250 mg of iron per whole blood donation, significantly increasing their risk of iron deficiency and anaemia. Recovery of donor iron stores following whole blood donation varies considerably. Using genomic DNA from blood donors, we have reported preliminary data for two molecular typing strategies to profile genetic variants associated with iron metabolism and storage.1,2 These studies on small numbers of donors using next generation sequencing (NGS) for a panel of genes associated with iron homeostasis2,3 and TaqMan arrays for 10 selected single-nucleotide polymorphisms (SNP)1 established proof-of-principle. Future work of this nature must consider the advantages of each tool. NGS, is more expensive and time consuming for both testing and data analysis, however, is required for identification of variants of significance in donor iron recovery. TaqMan is a fast, convenient, and less expensive tool to rapidly identify a donor’s variant profile for individual management. A two-stage approach would benefit future studies. First, a large-scale survey using sequencing techniques to identify genetic variants associated with recovery of post-donation iron stores. Second, rapid testing with a less expensive tool such as TaqMan suitable for rapid testing and individual tailoring of blood donation frequency. References 1. Ji Y, Flower R, Hyland C, et al. Genetic factors associated with iron storage in Australian blood donors. Blood Transfus 2018; 16: 123–9. 2. Jacko G, Sivakaanthan A, Obeysekera M, et al. Next generation sequencing to identify iron status and individualise blood donors’ experience. Blood Transfus 2023; (in press). 3. McDonald CJ, Ostini L, Wallace DF, et al. Next-generation sequencing: application of a novel platform to analyze atypical iron disorders. J Hepatol 2015; 63: 1288–93.
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donor donation frequency,molecular typing
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