SHORT REPORTSFactor VIII gene explains all cases of haemophilia A
References (8)
- et al.
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene
Lancet
(1991) - et al.
A transcribed gene in an intron of the human factor VIII gene
Genomics
(1990) - et al.
Direct detection of point mutations by mismatch analysis: application to haemophilia B
Nucl Acids Res
(1989)
Cited by (66)
Disorders of Hemostasis and Thrombosis
2022, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic DisordersHunting down factor VIII in the immunopeptidome
2016, Cellular ImmunologyCitation Excerpt :Based on this it was proposed that severe hemophilia A patients with the intron 22 inversion should be considered as intracellular-CRM positive and not CRM negative [13]. These results are in accordance with early studies by Naylor and co-workers who have provided evidence for the presence of F8 gene transcripts in PBMC of healthy individuals and patient with an intron 22 inversion [14]. The authors claim that the entire primary amino acid sequence of FVIII is represented in the predicted protein products of hemophilia A patients with the intron 22 inversion.
Molecular Diagnostics for Coagulopathies
2016, Diagnostic Molecular Pathology: A Guide to Applied Molecular TestingHemophilias and Other Disorders of Hemostasis
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsFactor VIII biosynthesis: New inspirations?
2006, BloodLack of F8 mRNA: A novel mechanism leading to hemophilia A
2006, BloodCitation Excerpt :Therefore, this absence of detectable expression in this patient could be because the studied mRNA are isolated from total blood that expresses only low levels of F8. Two reasons argue against this: (1) in humans an ectopic expression of F8 in total blood can be detected, and this is widely used to screen for mutations or rearrangements in the F8 cDNA13-15; (2) the results obtained in control subjects and the reproducibility and consistency of the experiments in the patient, his mother, and his sister should exclude any bias being specific for ectopic lymphocyte RT-PCR. The absence of detectable expression of the GA allele in the lymphocyte-derived RNA in both the mother and the sister could theoretically also be the result of skewed X-chromosome inactivation that is leaving only the allele from the active X chromosome to be actively expressed.