Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemia

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

“…Proteomic studies have previously been utilized to identify potential biomarkers of β-thalassemia disease severity, analyzing serum 39 , plasma 40 – 43 , or peripheral blood microvesicles 44 , 45 , for improved clinical management. Such analyses, although important, address downstream sequelae of the root cause of disease pathophysiology, IE of the erythroid cells.…”

Differential proteomic patterns of plasma extracellular vesicles show potential to discriminate β-thalassemia subtypes

“…To compare with the plasma proteomics, we used the same clinical cohort as our previous study on plasma proteomics of β-thalassemia. 23 In the discovery stage of this study, plasma samples from seven random individuals in each group were pooled together to reduce individual differences. The pooled plasma was then separated using an asymmetrical field-flow fractionation (AF4) to obtain EVs.…”

“…We envisioned that the potential protein biomarkers found in plasma, a simple, easily accessible sample type, could assess disease severity. However, our previous plasma proteomics study of β-thalassemia patients 23 revealed that patients with TM and TI present with remarkably similar plasma proteomic profiles, and the differential proteins were not significant and not able to distinguish between TM and TI subtypes, which propelled us to perform the current proteomic study on plasma EVs. Based on the triangular MS-based biomarker mining strategy, 29 a total of 30 dysregulated plasma EV proteins were reported here in response to varying degrees of impaired β-globin synthesis.…”

“…Detailed clinical information is available in Table S1 and from a previous plasma proteomics study. 23 Written informed consent was obtained from the parents or legal guardians of patients under the age of consent. All patients received regular blood transfusion, iron chelation therapy, and none underwent splenectomy.…”

Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype

“…The copyright holder for this this version posted September 2, 2022. ; https://doi.org/10.1101/2022.09.01.506225 doi: bioRxiv preprint Proteomic studies have previously been utilised to identify potential biomarkers of βthalassemia disease severity, analysing serum 42 , plasma [43][44][45][46] , or peripheral blood microvesicles 47,48 , for improved clinical management. Such analyses, although important, address downstream sequelae of the root cause of disease pathophysiology, IE of the erythroid cells.…”