Carrier detection in hemophilia A : a cooperative international study. I. The carrier phenotype
Graham, J B ; Rizza, C R ; Chediak, J ; Mannucci, P M ; Briët, E ; Ljung, R LU
; Kasper, C K
; Essien, E M
and Green, P P
(1986)
In Blood
67(6).
p.9-1554
- Abstract
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal... (More)
Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal women and either type of carrier. Age was found to have a significant effect on both F.VIII:C and VWF:Ag, values being higher at very young and very old ages, the minima occurring in the 25- to 30-year range. ABO blood type had a striking effect. Women of types A, B, and AB (designated non-O in the study), both normals and carriers, had significantly higher levels of both factors than did women of type O. Analysis by laboratories showed that differences in mean levels of both factors between laboratories were highly significant. It was concluded that age, ABO blood type, and laboratory variation should be taken into account in carrier detection.
(Less)
- author
- Graham, J B
; Rizza, C R
; Chediak, J
; Mannucci, P M
; Briët, E
; Ljung, R
LU
; Kasper, C K
; Essien, E M
and Green, P P
- organization
- publishing date
- 1986-06
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- ABO Blood-Group System, Adult, Age Factors, Factor VIII, Female, Hemophilia A, Heterozygote Detection, Humans, International Cooperation, Phenotype, von Willebrand Factor, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.
- in
- Blood
- volume
- 67
- issue
- 6
- pages
- 9 - 1554
- publisher
- American Society of Hematology
- external identifiers
-
- scopus:0022542283
- pmid:3085743
- ISSN
- 0006-4971
- language
- English
- LU publication?
- yes
- id
- 8b27968c-8bb2-4f59-8927-133e711d933e
- date added to LUP
- 2016-10-26 14:03:04
- date last changed
- 2024-01-04 14:59:25
@article{8b27968c-8bb2-4f59-8927-133e711d933e,
abstract = {{<p>Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal women and either type of carrier. Age was found to have a significant effect on both F.VIII:C and VWF:Ag, values being higher at very young and very old ages, the minima occurring in the 25- to 30-year range. ABO blood type had a striking effect. Women of types A, B, and AB (designated non-O in the study), both normals and carriers, had significantly higher levels of both factors than did women of type O. Analysis by laboratories showed that differences in mean levels of both factors between laboratories were highly significant. It was concluded that age, ABO blood type, and laboratory variation should be taken into account in carrier detection.</p>}},
author = {{Graham, J B and Rizza, C R and Chediak, J and Mannucci, P M and Briët, E and Ljung, R and Kasper, C K and Essien, E M and Green, P P}},
issn = {{0006-4971}},
keywords = {{ABO Blood-Group System; Adult; Age Factors; Factor VIII; Female; Hemophilia A; Heterozygote Detection; Humans; International Cooperation; Phenotype; von Willebrand Factor; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.}},
language = {{eng}},
number = {{6}},
pages = {{9--1554}},
publisher = {{American Society of Hematology}},
series = {{Blood}},
title = {{Carrier detection in hemophilia A : a cooperative international study. I. The carrier phenotype}},
volume = {{67}},
year = {{1986}},
}