Holger Cario

TL;DR: It is reported here that JAK2V617F-associated disease is strongly associated with a specific constitutional Jak2 haplotype, designated 46/1, in all three disease entities compared to healthy controls and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation.

TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.

TL;DR: This 1‐yr prospective phase II trial evaluated the efficacy of deferasirox in regularly transfused patients aged 3–81’yrs with myelodysplastic syndromes and other rare anaemias.

TL;DR: The results suggest that deferasirox had a positive impact on patients' daily lives, and patient-reported satisfaction and convenience were significantly higher for the once-daily, oral ICT defer asirox than for DFO infusions.

TL;DR: Insulin resistance is of central importance for the development of diabetes mellitus in patients with secondary haemochromatosis and an additional early defect in β-cell secretion cannot be excluded.