PMC

Regions in the ALB that seem to be more prone to variants resulting in CAA. The linear map of the gene, the colors, and the symbols are as in , . Variants at position c.412 in exon 4 may result in analbuminemia Bethesda (c.412C > T) or in bisalbumin Yanomama-2 (p.Arg138Gly; c.412C > G). These two variants are in a CpG sequence (c.412–413). LoF variants present in public database, but not yet identified as cause of CAA, are in parenthesis.

(A) Platelet aggregation and (B) plasma concentration of TxB₂, (C) sCD40L, (D) sNOX2dp (E) H₂O₂ production, (F) 8‐iso‐PGF2α and (G) NO bioavailability in patients with analbuminemia before and 2 h after albumin infusion (n = 2; *p < .05, **p < .01). (H) Representative flow cytometry plots of platelets labelled directly in whole blood with PAC1‐FITC, antibody that binds the active form of integrin αIIbβ3, and anti‐CD62P‐PE, that binds P‐selectin exposed on the surface of platelets that have degranulated, before (left plot) and 2 h after (right plot) albumin infusion. (I) Integrin activation, (J) α‐granule secretion, (K) platelet‐leukocytes aggregate in platelets stimulated with or without PAR4p (0.5 mM and 5 mM) or ADP (1 µM and 50 µM) before and 2 h (T2h) after albumin infusion, in patient 1 with analbuminemia (n = 1). (L) CitH3 concentration in in patients with analbuminemia before and 2 h after albumin infusion (n = 2; *p < .05, **p < .01). (M) Integrin activation, (N) α‐granule secretion, in platelets stimulated with or without PAR1p, or ADP or convulxin before and 2 h after albumin infusion, in analbuminemic patient 1 returned after 6 months with controlled levels of albumin (n = 1)