Clinical, Molecular, and Genetic Bases of Rare Inherited Coagulation Disorders (RICDs)

Dear Colleagues,

Rare Inherited Coagulation Disorders (RICDs), which are also frequently referred to as Rare Bleeding Disorders (RBDs), mainly comprise bleeding disorders with a very low prevalence in the general population. RICDs include inherited deficiencies or defects in fibrinogen (FI), prothrombin (FII), and coagulation factors V (FV), VII (FVII), X (FX), XI (FXI), and XIII (FXIII). These diseases can present as the isolated deficiency of one factor or, more rarely, as the combined deficiency of two (combined FV/FVIII deficiency) or many (vitamin K-dependent coagulation factor deficiency) coagulation factors. Collectively, RICDs account for approximately 3–5% of the coagulation disorders, the remaining 95–97% being represented by the more common X-linked hemophilias (deficiency of factor VIII or factor IX) and von Willebrand factor.

Notwithstanding the many efforts to better assess the epidemiology and underlying molecular mechanisms of RICDs, data on “true” prevalence rates and mutational spectra are still not comprehensive, especially for developing countries. In addition, even if a relatively large number of patients have been screened for mutations in the candidate genes, in most of the cases the underlying molecular mechanism has not been experimentally validated. This, besides leaving a knowledge gap between genetic data and the related pathophysiologic processes, is also responsible for a non-negligible proportion of errors in reporting “true” causal variants, a problem that is particularly frequent in rare recessive diseases.

In this respect, this Special Issue of Biomedicines will focus on providing updated mutational spectra, novel insights into genotype–phenotype correlations, as well as on giving insights into the molecular pathogenesis of RICDs. Indeed, spontaneous mutants in the population can represent a useful tool to inspect critical residues for coagulation factor assembly, secretion, function, and interaction with other proteins, as well as to elucidate molecular mechanisms underlying mRNA processing. This approach, that in the past century has been fundamental to the discovery of most of the coagulation factors and to understanding the mechanisms of blood coagulation, still represents an extraordinary tool for studying the molecular details of structure–function relationships of coagulation factors and for highlighting novel strategies to improve RICDs therapy, which in most cases is based on the availability of a suitable factor-replacement product.

Prof. Dr. Rosanna Asselta
Dr. Elvezia Maria Paraboschi
Guest Editors

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• rare coagulation factor deficiencies;
• genetic bases;
• mutations;
• pathogenic mechanisms;
• expression of recombinant proteins;
• RNA processing;
• population genetics;
• clinical spectrum.

• Molecular and Genetic Bases of Rare Inherited Coagulation Disorders (RICDs) in International Journal of Molecular Sciences (4 articles)