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PLASTIC RECONSTRUCTIVE AND REGENERATIVE SURGERY

Abstract

Introduction
Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by a deficiency or functional impairment of coagulation factor VIII (FVIII). HA has a worldwide prevalence of approximately 1 in 5,000 males. Based on residual FVIII activity, the disease is classified as severe (FVIII:C below 1%), moderate (FVIII:C 1-5%), or mild (FVIII:C 5-30%)1,2. Among patients with severe HA, intron 22 inversion (Inv22) in the FVIII gene (F8) is the most common genetic anomaly, accounting for at least 30-40% of cases3,4. Inv22 mutation results from homologous recombination of the int22h-1 region in the F8 locus with the int22h-2 (Inv22 type 1, Inv22-1) or int22h-3 (Inv22 type 2, Inv22-2) regions lying about 400 Kb distal from F85. Female HA carriers are usually asymptomatic because the presence of a single copy of normal F8 suffices to ensure the production of sufficient concentrations of FVIII for haemostasis6. There are, however, some reports of HA females who bleed. [...]

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Authors

Viviana Daidone Thrombohaemorrhagic Disorders Unit, Department of Medicine, University of Padua Medical School, Padua, Ital

Eva Galletta Thrombohaemorrhagic Disorders Unit, Department of Medicine, University of Padua Medical School, Padua, Ital

Antonella Bertomoro Thrombohaemorrhagic Disorders Unit, Department of Medicine, University of Padua Medical School, Padua, Ital

Alessandra Casonato Thrombohaemorrhagic Disorders Unit, Department of Medicine, University of Padua Medical School, Padua, Ital

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