title: Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A.
abstract: Intron 22 factor VIII gene inversion (Inv22) is the most common mutation causing severe haemophilia A (SHA). We studied Inv22 in 34 SHA affected families by Southern blotting. Data from the familial history of the disease and the inhibitor status were also included. We found Inv22 in 41 % of SHA Argentine families (35 % with type 1 and 6 % with type 2), in close agreement with previously reported series. No significant correlation between the inheritance (familiar or sporadic disease) and the presence of inversions was found. Our population showed 24 % of families included at least one hemophiliac with inhibitor. In families positive for Inv22, 29 % of patients developed inhibitor but this increased frequency was not statistically significant. In conclusion, analysis of Inv22 in SHA patients should be used as a first line method because it provides useful and secure information for carrier detection and prenatal diagnosis in a high percentage of cases.
authors.affiliation: Departamento de Genética, Instituto de Investigaciones Hematológicas "Mariano R. Castex', Academia Nacional de Medicina, Buenos Aires, Argentina.
authors.forename: C
authors.initials: C
authors.lastname: De Brasi
authors.forename: M
authors.initials: M
authors.lastname: Candela
authors.forename: M
authors.initials: M
authors.lastname: Cermelj
authors.forename: I
authors.initials: I
authors.lastname: Slavutsky
authors.forename: I
authors.initials: I
authors.lastname: Larripa
authors.forename: R P
authors.initials: RP
authors.lastname: Bianco
authors.forename: M
authors.initials: M
authors.lastname: De Tezanos Pinto
mesh_terms: D001118:Argentina / Q000453:epidemiology; D015139:Blotting, Southern; D007446:Chromosome Inversion; D015342:DNA Probes; D005169:Factor VIII / Q000235:genetics* / Q000276:immunology; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006467:Hemophilia A / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007438:Introns / Q000235:genetics*; D007518:Isoantibodies / Q000097:blood; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D007518:Isoantibodies; D005169:Factor VIII