Genetic Basis of Fibrinogen Disorders

Dear Colleagues,

Congenital fibrinogen disorders, including afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia, are estimated to represent about 8% of rare inherited coagulopathies. In addition to the most obvious and frequent consequences of fibrinogen disorders, i.e., hemorrhagic and/or thrombotic manifestations, specific point mutations in the γ and in the Aα chain genes can also lead to organ damage; in the liver, due to endoplasmic accumulation of mutant fibrinogen molecules, and in the kidney as a result of an increased susceptibility to proteolysis of aggregation-prone fibrinogen peptides, leading to systemic amyloidosis.

Notwithstanding the significant effort to better assess their epidemiology and underlying molecular mechanisms, data on “true” prevalence rates, mutational spectra, and clinical management of these disorders are still not comprehensive.

In this Special Issue of the International Journal of Molecular Sciences, the focus will be the “Genetic Basis of Fibrinogen Disorders”, including insights into epidemiologic data, mutational spectra, and molecular pathogenesis. In this respect, studying fibrinogen spontaneous mutants in the population can represent a useful tool to inspect critical residues for fibrinogen assembly, secretion, function, and interaction with other proteins, as well as to elucidate molecular mechanisms underlying fibrinogen-chain mRNA processing. In addition, although the precise knowledge of the genetic defects responsible for fibrinogen disorders in each patient is of limited clinical utility, as genotype/phenotype correlations are weak, it still provides a valuable tool for diagnosis confirmation, identification of potential carriers, and prenatal diagnosis.

Assoc. Prof. Dr. Rosanna Asselta
Guest Editor

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