| CASE REPORT |
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| Year : 2011 | Volume
: 17
| Issue : 3 | Page : 232-234 |
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A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A
Habib Onsori1, Mohammad Ali Hosseinpour Feizi2, Abbas Ali Hosseinpour Feizi3
1 Department of Biology, Marand Branch, Islamic Azad University, Marand, Iran
2 Department of Biology, University of Tabriz, Tabriz, Iran
3 Department of Biology, Tabriz University of Medical Sciences, Tabriz, Iran
Correspondence Address:
Habib Onsori
Department of Biology, Marand Branch, Islamic Azad University, Marand
Iran
 Source of Support: Islamic Azad University, Conflict of Interest: None
DOI: 10.4103/0971-6866.92095
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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. |
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