A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A

Indian J Hum Genet. 2011 Sep;17(3):232-4. doi: 10.4103/0971-6866.92095.


Hemophilia A is an X-linked congenital bleeding disorder caused by Factor VIII deficiency. Different mutations including point mutations, deletions, insertions and inversions have been reported in the FVIII gene, which cause hemophilia A. In the current study, with the use of conformational sensitive gel electrophoresis (CSGE) analysis, we report a novel 1-nt deletion in the A6 sequence at codons 1328-1330 (4040-4045 nt delA) occurring in exon 14 of the FVIII gene in a seven-year-old Iranian boy with severe hemophilia A. This mutation that causes frameshift and premature stop-codon at 1331 has not previously been reported in the F8 Hemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS) database.

Keywords: Conformational sensitive gel electrophoresis; Hemophilia A; deletion; factor VIII; frameshift; novel mutation.

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  • Case Reports