Inversion mutation as a major cause of severe hemophilia A in Italian patients.

Abstract:

:We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients. The genomic DNA of 146 unrelated Italian patients with severe hemophilia A (HA) was hybridized with an F8A gene probe to detect the abnormal band patterns. A recombinant event was found in 71/146 patients, confirming the high incidence of this mutation in the Italian hemophilic population also. We conclude that the high frequency of the mutation in HA subjects allows us to make a direct and safe diagnosis in about 50% of our families without resorting to RFLP analysis.

journal_name

Haematologica

journal_title

Haematologica

authors

Mori PG,Caprino D,Bicocchi MP,Valetto A,Bottini F,Aquila M

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

75-6

issue

1

eissn

0390-6078

issn

1592-8721

journal_volume

82

pub_type

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