Phenotype: Hemophilia A


OMIM: 306700
Inheritance: X-linked recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

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F8 || Exon 13 duplication

Gene/Locus:    F8
Dna Change:    Exon 13 duplication
Protein Change:   
Mutation Type:    Duplication
Mutation Effect:   
Location:    exon 13
Transcript:    NM_000132.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorthern32% (10 patients/31 patients)NAAcquila M et al., 2004Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP, . Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.. Haematologica. 2004; 89(6):758-9

F8 || c.1538-18G>A

Gene/Locus:    F8
Dna Change:    c.1538-18G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 10
Transcript:    NM_000132.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASouthernNANASantacroce R et al., 2008Santacroce R, Santoro R, Sessa F, Iannaccaro P, Sarno M, Longo V, Gallone A, Vecchione G, Muleo G, Margaglione M, . Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.. Blood Coagul. Fibrinolysis. 2008; 19(3):197-202

References

Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP, Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.Haematologica. 2004; 89(6):758-9

Santacroce R, Santoro R, Sessa F, Iannaccaro P, Sarno M, Longo V, Gallone A, Vecchione G, Muleo G, Margaglione M, Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.Blood Coagul. Fibrinolysis. 2008; 19(3):197-202