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

Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es 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&...

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Bibliographic Details
Published in:Haematologica (Roma) 2000-10, Vol.85 (10), p.1092-1095
Main Authors: Espinos, C, Lorenzo, JI, Casana, P, Martinez, F, Aznar, JA
Format: Article
Language:English
Subjects:
Biological and medical sciences
Dosage Compensation, Genetic
Female
Hematologic and hematopoietic diseases
Hemophilia B - complications
Hemophilia B - etiology
Hemophilia B - genetics
Hemophilia B - therapy
Humans
Infant
Lung Transplantation
Male
Medical sciences
Pedigree
Platelet diseases and coagulopathies
Prothrombin - therapeutic use
Pulmonary Fibrosis - etiology
Pulmonary Fibrosis - surgery
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Summary:Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es 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.
ISSN:0390-6078
1592-8721