Publications by authors named "P Aguilar-Martinez"
Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.
View Article and Find Full Text PDFIron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very efficiently, losing less than 0.1% of their body iron content each day, an amount that is replaced through dietary iron absorption.
View Article and Find Full Text PDFArticle Synopsis
- Predicting bleeding risk in carriers of hemophilia A and B is complex, and the study aims to analyze the bleeding phenotype using the standardized Tosetto bleeding score (BS).
- The study found no significant differences in median bleeding scores or abnormal scores between hemophilia A carriers (HAC) and hemophilia B carriers (HBC), but noted a higher risk of factor deficiency in HBC.
- Significant findings include that specific factor activity thresholds were good predictors of bleeding risk in HBC, while no reliable threshold for FVIII:C levels was identified for HAC due to variability.
Ferritin is a hetero-oligomeric nanocage, composed of 24 subunits of two types, FTH1 and FTL. It protects the cell from excess reactive iron, by storing iron in its cavity. FTH1 is essential for the recruitment of iron into the ferritin nanocage and for cellular ferritin trafficking, whereas FTL contributes to nanocage stability and iron nucleation inside the cavity.
View Article and Find Full Text PDFBackground And Aims: Mobility and migration flows are growing from different countries of the world to European countries, including France and in particular the Mediterranean basin. This study aimed to investigate the presence of hemoglobin (Hb) variants in outpatients/inpatients of the Montpellier Hospital (France) in whom an HbA1c assay had been performed and for which the country of birth had been informed.
Methods: This is a retrospective study from January 2016 to December 2020 based on all high-performance liquid chromatography (HPLC) chromatograms (Tosoh Bioscience HLC-723G8) having an alarm of suspected Hb variant during HbA1c measurement.