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Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 2011

Song Min-Jung, Kim Hee-Jin, Yoo Ki-Young, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee

Abstract excerpt

Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in the F8 gene. Hemophilia A typically occurs in male individuals, but female patients with hemophilia A have rarely been reported. Here we describe molecular characteristics of three unrelated female patients with severe hemophilia A of Korean descent. Patient 1 was a 5-year-old girl and was found to be compound heterozygous for intron...

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PMID: 21297454
DOI: 10.1097/MBC.0b013e328343f873

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