Genetic Counseling by Analysis of Intron 22 Inversions of the Factor VIII Gene

Abstract

Ten patients with severe hemophilia A and 10 with moderate and mild hemophilia A were studied. Five of 10 unrelated patients with severe hemophilia A had the distal telo meric int22h sequence, none had the proximal sequence, and one had a unique variant factor VIII gene rearrangement. Car rier detection was done in these six families. All mothers and two daughters of the patients were to be carriers. Six of the 15 at-risk female relatives were heterozygous for the rearranged and normal allele and were carriers. These results indicate that the rearrangement assay is very useful for carrier detection in families with severe hemophilia A. Key Words: Hemophilia A—Factor VIII gene rearrangement—Genetic counseling.

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