Document Detail

Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation.
MedLine Citation:
PMID:  10583534     Owner:  NLM     Status:  MEDLINE    
We report a case of severe haemophilia A (<1% factor VIII level) in a female resulting from an interesting and improbable combination of events. The patient inherited a factor VIII intron 22 inversion from her carrier mother, as well as a second factor VIII inversion involving intron 22 that arose de novo on her paternally derived X chromosome. In addition, the patient's paternally derived X chromosome had been preferentially inactivated in 95+% of her somatic cells. The patient's mother, who was clinically unaffected, carried an intron 22 inversion as well and also showed nonrandom X-inactivation. The patient's mother had a brother with severe haemophilia A. It is therefore likely that the mother's inversion was on her maternally derived X chromosome. Since she was unaffected, it is likely that her inversion-bearing X was the one that was preferentially inactivated.
R A Seeler; C L Vnencak-Jones; L M Bassett; J B Gilbert; R C Michaelis
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Haemophilia : the official journal of the World Federation of Hemophilia     Volume:  5     ISSN:  1351-8216     ISO Abbreviation:  Haemophilia     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-02-18     Completed Date:  2000-02-18     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9442916     Medline TA:  Haemophilia     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  445-9     Citation Subset:  IM    
Department of Paediatrics, Michael Reese Hospital and University of Illinois, Chicago, Illinois, USA.
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MeSH Terms
Blotting, Southern
Chromosome Inversion
DNA Methylation
Factor VIII / genetics
Family Health
Gene Silencing
Hemophilia A / genetics*
Sex Chromosome Aberrations / genetics*
X Chromosome / genetics
Reg. No./Substance:
9001-27-8/Factor VIII

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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