Inheritable molecular variants of moderate and mild hemophilia A
(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.
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https://lup.lub.lu.se/record/69d98da1-2b4d-41c6-a897-86d21dc0f8e7
- author
- Ljung, R LU ; Holmberg, Lars LU and Nilsson, Inga Marie
- organization
- publishing date
- 1981
- 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
- 2024-01-04 14:58:01
@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}}, }