The Molecular Basis of Hemophilia A and the Present Status of Carrier and Antenatal Diagnosis of the Disease

1993 ◽  
Vol 70 (01) ◽  
pp. 060-062 ◽  
Author(s):  
Haig H Kazazian
2014 ◽  
pp. 21-32 ◽  
Author(s):  
Geoffrey Kemball-Cook ◽  
Keith Gomez
Keyword(s):  

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1407-1410 ◽  
Author(s):  
LW Hoyer ◽  
CA Carta ◽  
MJ Mahoney

Abstract The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on frozen samples that had been obtained when women were seen for antenatal diagnosis studies (carrier women) or for routine prenatal care (controls). A linear discriminant was calculated that best separated the data for 32 normal women and 25 obligate carriers of the hemophilia gene. Twenty-three of 25 carriers (92%) and all 32 control women were correctly identified in this analysis. The overall classification accuracy (55/57, 96%) is comparable to that obtained by VIII:C and VIIIR:Ag measurements using freshly drawn blood samples in nonpregnant individuals. This study demonstrates that hemophilia A carriers can be detected during pregnancy with sufficient accuracy that the information may be used for genetic counseling.


2010 ◽  
pp. 24-32
Author(s):  
Geoffrey Kemball-Cook ◽  
Keith Gomez
Keyword(s):  

2006 ◽  
Vol 83 (2) ◽  
pp. 96-102 ◽  
Author(s):  
Johannes Oldenburg ◽  
Osman El-Maarri

1988 ◽  
Vol 4 (8) ◽  
pp. 233-237 ◽  
Author(s):  
Stylianos E. Antonarakis ◽  
Haigh H. Kazazian
Keyword(s):  

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1407-1410
Author(s):  
LW Hoyer ◽  
CA Carta ◽  
MJ Mahoney

The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on frozen samples that had been obtained when women were seen for antenatal diagnosis studies (carrier women) or for routine prenatal care (controls). A linear discriminant was calculated that best separated the data for 32 normal women and 25 obligate carriers of the hemophilia gene. Twenty-three of 25 carriers (92%) and all 32 control women were correctly identified in this analysis. The overall classification accuracy (55/57, 96%) is comparable to that obtained by VIII:C and VIIIR:Ag measurements using freshly drawn blood samples in nonpregnant individuals. This study demonstrates that hemophilia A carriers can be detected during pregnancy with sufficient accuracy that the information may be used for genetic counseling.


2007 ◽  
pp. 19-26
Author(s):  
Geoffrey Kemball-Cook ◽  
Edward Tuddenham
Keyword(s):  

1978 ◽  
Vol 48 ◽  
pp. 175-178 ◽  
Author(s):  
K. J. Johnston
Keyword(s):  

A summary of results for radio astrometry with baselines ≤ 35 km and priorities for future work are given.


Author(s):  
Ben O. Spurlock ◽  
Milton J. Cormier

The phenomenon of bioluminescence has fascinated layman and scientist alike for many centuries. During the eighteenth and nineteenth centuries a number of observations were reported on the physiology of bioluminescence in Renilla, the common sea pansy. More recently biochemists have directed their attention to the molecular basis of luminosity in this colonial form. These studies have centered primarily on defining the chemical basis for bioluminescence and its control. It is now established that bioluminescence in Renilla arises due to the luciferase-catalyzed oxidation of luciferin. This results in the creation of a product (oxyluciferin) in an electronic excited state. The transition of oxyluciferin from its excited state to the ground state leads to light emission.


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