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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 3, 2011, pp. 232-234
Bioline Code: hg11048
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 3, 2011, pp. 232-234

 en A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A
Onsori, Habib; Feizi, Mohammad Ali Hosseinpour. & Feizi, Abbas Ali Hosseinpour.


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.

Conformational sensitive gel electrophoresis, deletion, frameshift, factor VIII, Hemophilia A, novel mutation

© Copyright 2011 Indian Journal of Human Genetics.
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