Korean J Obstet Gynecol.  2004 Oct;47(10):1975-1981.

Factor VIII Gene Mutations in Korean Patients with Hemophilia A

• Choi YM
• Kim EJ
• Lee MR
• Son YS
• Choe J
• Hwang D
• Jun JK
• Jee BC
• Ku SY
• Suh CS
• Kim SH
• Kim JG
• Moon SY

Abstract

OBJECTIVE
To identify mutations within the factor VIII gene in Korean patients with severe hemophilia A. DESIGN: A laboratory analysis.
METHODS
We systematically sequenced the promoter, all exons and splice junctions of factor VIII gene in 23 unrelated Korean patients with severe hemophilia A. Patients with factor VIII gene inversion were excluded.
RESULTS
Twelve patients (52.2%) showed a point mutation, among which 6 were nonsense mutations and the other 6 were missense mutations. A large deletion was found in 6 (26.1%) patients, a small deletion in 2 (8.7%), a small insertion in one patient. Two patients had compound mutations: one patient had two missense mutations, and the other had a missense mutation and 4 bp insertion. Ten (43.5%) out of 23 mutations found are novel.
CONCLUSION
Mutations within the factor VIII gene found in Korean patients with moderate to severe hemophilia A are diverse as expected. And we have found 10 novel mutations. Our results can help understanding the molecular pathology of hemophilia A.

Keyword

Hemophila A; Mutation; Factor VIII gene

MeSH Terms

Codon, Nonsense
Exons
Factor VIII*
Hemophilia A*
Humans
Mutation, Missense
Pathology, Molecular
Point Mutation
Codon, Nonsense
Factor VIII