@article{3033874,
    title = "Beta thalassemia minor is a beneficial determinant of red blood cell
storage lesion",
    author = "Tzounakas, Vassilis L. and Anastasiadi, Alkmini T. and Stefanoni, Davide and and Cendali, Francesca and Bertolone, Lorenzo and Gamboni, Fabia and and Dzieciatkowska, Monika and Rousakis, Pantelis and Vergaki, Athina and and Soulakis, Vassilis and Tsitsilonis, Ourania E. and Stamoulis, and Konstantinos and Papassideri, Issidora S. and Kriebardis, Anastasios G. and and D'Alessandro, Angelo and Antonelou, Marianna H.",
    journal = "Haematologica-the hematology journal",
    year = "2022",
    volume = "107",
    number = "1",
    pages = "112-125",
    publisher = "Ferrata Storti Foundation",
    doi = "10.3324/haematol.2020.273946",
    abstract = "Blood donor genetics and lifestyle affect the quality of red blood cell
(RBC) storage. Heterozygotes for beta thalassemia (beta Thal(+))
constitute a non-negligible proportion of blood donors in the
Mediterranean and other geographical areas. The unique hematological
profile of beta Thal(+) could affect the capacity of enduring storage
stress, however, the storability of beta Thal(+) RBC is largely unknown.
In this study, RBC from 18 beta Thal(+) donors were stored in the cold
and profiled for primary (hemolysis) and secondary (phosphatidylserine
exposure, potassium leakage, oxidative stress) quality measures, and
metabolomics, versus sex- and age-matched controls. The beta Thal(+)
units exhibited better levels of storage hemolysis and susceptibility to
lysis following osmotic, oxidative and mechanical insults. Moreover,
beta Thal(+) RBC had a lower percentage of surface removal signaling,
reactive oxygen species and oxidative defects to membrane components at
late stages of storage. Lower potassium accumulation and higher
urate-dependent antioxidant capacity were noted in the beta Thal(+)
supernatant. Full metabolomics analyses revealed alterations in purine
and arginine pathways at baseline, along with activation of the pentose
phosphate pathway and glycolysis upstream to pyruvate kinase in beta
Thal(+) RBC. Upon storage, substantial changes were observed in
arginine, purine and vitamin B6 metabolism, as well as in the hexosamine
pathway. A high degree of glutamate generation in beta Thal(+) RBC was
accompanied by low levels of purine oxidation products (IMP,
hypoxanthine, allantoin). The beta Thal mutations impact the metabolism
and the susceptibility to hemolysis of stored RBC, suggesting good
post-transfusion recovery. However, hemoglobin increment and other
clinical outcomes of beta Thal(+) RBC transfusion deserve elucidation by
future studies."
}