Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era.
An adequate classification of congenital bleeding disorders is of great importance in clinical practice. This is true also for factor X (FX) deficiency. This defect is classified in two forms: type I (cases with low activity and antigen) and type II (cases with low activity and variable levels of antigen). The introduction of molecular biology techniques has allowed a classification based on the site of mutation (propeptide, Gla-domain, catalytic domain etc.) or on the type of mutation (missense, nonsense, deletion etc.). However, with a partial exception for defects in the Gla-domain, no site or type of mutation yields a constant and/or typical phenotype. Due to these difficulties, a classification based on clotting, chromogenic or immunological assays is still the most suited for clinical purposes. A satisfactory classification that takes into account recent advances of FX deficiency could read today as follows: • Type I (cross-reacting material (CRM) negative) (Stuart like) • Type II (CRM positive with inert protein) (Prower like) • Type III (CRM positive with disreactive protein) 1. Defects in all activity systems but for RVV activation (Friuli like) 2. Defects only or predominantly in the extrinsic-Xase system (Padua like) 3. Defects only or predominant in the intrinsic-Xase system (Melbourne like) 4. Defects with discrepant (high) chromogenic assays. Finally, type IV should be added to include cases of FX deficiency associated with FVII deficiency usually due to chromosome 13 abnormalities. By using this nosographic approach, all reported cases of FX deficiency can be adequately allocated to one of these groups.
Girolami
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Department of Medical and Surgical Sciences, University of Padua Medical School, Padua, Italy. antonio.girolami@unipd.it
Vettore
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Scarparo
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Lombardi
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D001777:Blood Coagulation / Q000502:physiology; D002863:Chromogenic Compounds / Q000032:analysis; D005171:Factor X Deficiency / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D006801:Humans; D009154:Mutation
D002863:Chromogenic Compounds