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Updated: Jul 31, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Next generation sequencing to identify iron status and individualise blood donors' experience
Georgina Jacko1, Aarany Sivakaanthan1, Maheshi Obeysekera1
1Clinical Services and Research, Australian Red Cross Lifeblood, Brisbane, Australia.
Insights
A specific gene variant, rs8177181, was linked to higher iron stores in young male blood donors. This finding could help personalize donation frequency and improve donor health.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Young adults are primary blood donors but face higher risks of iron deficiency anemia.
- Lower iron stores in young donors can impact donor safety and retention.
- Identifying factors influencing iron stores can optimize blood donation practices.
Purpose of the Study:
- To investigate genetic factors associated with iron homeostasis in young male blood donors.
- To identify specific gene variants that predict higher iron stores.
- To explore potential for personalized blood donation protocols.
Main Methods:
- DNA samples from 47 young male donors (18-25 years) were sequenced.
- A custom gene panel focused on iron homeostasis was utilized.
- Variants were analyzed for association with plasma ferritin levels.
Main Results:
- 82 gene variants were analyzed.
- One variant, rs8177181 (Transferrin gene), showed a statistically significant association with plasma ferritin.
- Heterozygous alleles of rs8177181T>A positively predicted ferritin levels (p=0.03).
Conclusions:
- Genetic variants influence iron homeostasis in young blood donors.
- The rs8177181 variant may be a biomarker for higher iron stores.
- Further research is needed to achieve personalized blood donation protocols.
Background:
Young adults form the majority of first-time blood donors to Australian Red Cross Lifeblood. However, these donors pose unique challenges for donor safety. Young blood donors, who are still undergoing neurological and physical development, have been found to have lower iron stores, and have higher risks of iron deficiency anaemia when compared to older adults and non-donors. Identifying young donors with higher iron stores may improve donor health and experience, increase donor retention, and reduce the burden on product donation. In addition, these measures could be used to individualise donation frequency.
Materials And Methods:
Stored DNA samples from young male donors (18-25 years; No.=47) were sequenced using a custom panel of genes identified in the literature to be associated with iron homeostasis. The custom sequencing panel used in this study identified and reported variants to human genome version 19 (Hg19).
Results:
82 gene variants were analysed. Only one of which, rs8177181, was found to have a statistically significant (p<0.05) association with plasma ferritin level. Heterozygous alleles of this Transferrin gene variant, rs8177181T>A, significantly predicted a positive effect on ferritin levels (p=0.03).
Discussion:
This study identified gene variants involved in iron homeostasis using a custom sequencing panel and analysed their association with ferritin levels in a young male blood donor population. Additional studies of factors associated with iron deficiency in blood donors are required if a goal of personalised blood donation protocols is to be achieved.

