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Haematologica. 2000 Oct;85(10):1092-5.

Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.

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Unidad de Coagulopatías Congénitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain.


Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor IX (FIX) gene was characterized in a young female with moderate-to-severe hemophilia B. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia B in this patient.

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