The clinical picture of 56 patients with congenital amegakaryocytic thrombocytopenia due to MPL mutations was much more varied than previously thought. Twenty-five per cent of them had no signs of thrombocytopenia at birth, and 50% had non-hematologic defects. Pancytopenia developed in (nearly) all patients and hematopoietic stem-cell transplantation was effective in 87% of cases.

Sickle red blood cells exhibit abnormal adhesion to laminin mediated by Lu/BCAM protein at their surface. This study provides evidence of the involvement of oxidative stress in post-translational modifications of Lu/BCAM which impact the protein’s distribution and cis-interaction with glycophorin C at the cell surface activating its adhesive function in dense sickle red cells. The authors speculate that antioxidant drugs might attenuate this phenomenon.