Abstract

Introduction
Haemophilia A (HA, MIM 306700) is an X-linked recessive disease due to deficiency of coagulation factor VIII caused by mutations in the factor 8 (F8) gene1. The disease occurs in males while female carriers are typically asymptomatic1. In rare cases HA may occur in females. In the Italian Registry of Congenital Coagulation Disorders (2014 update), 29 female patients are reported out of 3,906 registered cases of HA. Among them, the large majority had mild haemophilia (n=25), whereas two women were diagnosed with severe HA and the other two with moderate HA2. The specific conditions underlying HA in women are: (i) a mutant gene in an X-0 female3,4; (ii) a mutant gene in an X chromosome plus extreme inactivation of the wild-type X chromosome5; and (iii) a female homozygous or compound heterozygous for two mutant F8 genes6. Here we report two cases recently diagnosed at our Centre (in the region of Campania, Southern Italy) with de novo mutations that had unusual and relevant clinical implications. [...]

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Authors

Federica Zarrilli - Department of Biosciences and Territory, University of Molise, Isernia; CEINGE - Advanced Biotechnologies Scarl, Naples

Antonio Coppola - Regional Reference Centre for Coagulation Disorders, "Federico II" University Hospital, Naples

Michele Schiavulli - "Santobono-Pausilipon" Hospital, Naples

Ernesto Cimino - Regional Reference Centre for Coagulation Disorders, "Federico II" University Hospital, Naples

Ausilia Elce - Pegaso Online University, Naples

Giuseppe Rescigno - Haemostasis and Thrombosis Centre, "Nocera Inferiore-Pagani" Hospital, Salerno

Giuseppe Castaldo - CEINGE - Advanced Biotechnologies Scarl, Naples; Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy

Felice Amato - CEINGE - Advanced Biotechnologies Scarl, Naples; Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy

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