Factor V Kuwait alias Factor V R3: A Rare Polymorphism of Uncertain Functional Significance

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“…We do not know yet what the origin of this mutation is and whether our patients and the African carriers of the mutation had a common ancestor. We agree with Castoldi et al [1] that comparative genomic studies are needed to determine the origin of this mutation (African or Arabic) or confirm a multiple occurrence of this mutation in different parts of the world; this mutation is present especially in an area of the factor V gene known to be a highly repetitive region.…”

“…As clarified by Castoldi et al [1], this mutation appeared to be present mainly in populations in Africa or of African origin. Our article was the first to discover the presence of this mutation in cases of Arabic origin, noting the close geographic location between Africa and the Arabian region (the Middle East).…”

“…As stated by Castoldi et al [1], the FVK mutation is a very rare one. We have to state here that this polymorphism had not been registered in the human gene bank before we found it in our patients, giving us the impression that it had not been described before.…”

“…We would like to thank Castoldi et al [1] for their valuable comments on our previously published article describing a novel mutation in the clotting factor V gene found in 2 Arab patients with venous thrombosis who were living in Kuwait [factor V Kuwait (FVK) mutation or FV H1254R polymorphism] [2]. As stated by Castoldi et al [1], the FVK mutation is a very rare one.…”