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Inheritable molecular variants of moderate and mild hemophilia A

Ljung, R LU orcid ; Holmberg, Lars LU and Nilsson, Inga Marie (1981) In Acta Medica Scandinavica 209(1-2). p.11-16
Abstract

Factor VIII clotting activity (VIII:C) and factor VIII clotting antigen (VIII:CAg) were investigated in 54 patients with hemophilia A of moderate or mild severity. The patients belonged to 28 kindreds. The study showed a genetically determined molecular variation within hemophilia A of both moderate and mild forms. Each form can be classified into 3 types according to the content of demonstrable VIII:CAg. Type I has no demonstrable VIII:CAg, type IIa has VIII:CAg in an amount smaller than, or approximately equal to, that of VIII:C and type IIb has a larger amount of VIII:CAg than VIII:C. Affected members of one and the same kindred always have the same type of the disease.

Please use this url to cite or link to this publication:
author
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Antigens, Blood Coagulation Tests, Factor VIII, Female, Genetic Variation, Hemophilia A, Humans, Male, Pedigree, Radioimmunoassay, Journal Article, Research Support, Non-U.S. Gov't
in
Acta Medica Scandinavica
volume
209
issue
1-2
pages
6 pages
publisher
Wiley-Blackwell
external identifiers
  • pmid:6782836
  • scopus:0019491508
ISSN
0001-6101
language
English
LU publication?
yes
id
69d98da1-2b4d-41c6-a897-86d21dc0f8e7
date added to LUP
2016-10-26 13:29:02
date last changed
2025-04-04 14:56:47
@article{69d98da1-2b4d-41c6-a897-86d21dc0f8e7,
  abstract     = {{<p>Factor VIII clotting activity (VIII:C) and factor VIII clotting antigen (VIII:CAg) were investigated in 54 patients with hemophilia A of moderate or mild severity. The patients belonged to 28 kindreds. The study showed a genetically determined molecular variation within hemophilia A of both moderate and mild forms. Each form can be classified into 3 types according to the content of demonstrable VIII:CAg. Type I has no demonstrable VIII:CAg, type IIa has VIII:CAg in an amount smaller than, or approximately equal to, that of VIII:C and type IIb has a larger amount of VIII:CAg than VIII:C. Affected members of one and the same kindred always have the same type of the disease.</p>}},
  author       = {{Ljung, R and Holmberg, Lars and Nilsson, Inga Marie}},
  issn         = {{0001-6101}},
  keywords     = {{Antigens; Blood Coagulation Tests; Factor VIII; Female; Genetic Variation; Hemophilia A; Humans; Male; Pedigree; Radioimmunoassay; Journal Article; Research Support, Non-U.S. Gov't}},
  language     = {{eng}},
  number       = {{1-2}},
  pages        = {{11--16}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Acta Medica Scandinavica}},
  title        = {{Inheritable molecular variants of moderate and mild hemophilia A}},
  volume       = {{209}},
  year         = {{1981}},
}