Fanconi's anaemia associated with haemophilia A
(1979) In Clinical Genetics 16(5). p.8-364- Abstract
Fanconi's anaemia and haemophilia A are born inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic... (More)
Fanconi's anaemia and haemophilia A are born inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic treatment.
(Less)
- author
- Ljung, R LU ; Holmberg, Lars LU ; Nilsson, K O LU and Thilén, A
- organization
- publishing date
- 1979-11
- type
- Contribution to journal
- publication status
- published
- keywords
- Abnormalities, Multiple, Anemia, Aplastic, Child, Factor VIII, Fanconi Anemia, Hemophilia A, Humans, Male, Thrombocytopenia, Case Reports, Journal Article
- in
- Clinical Genetics
- volume
- 16
- issue
- 5
- pages
- 5 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- scopus:0018731797
- pmid:519907
- ISSN
- 0009-9163
- DOI
- 10.1111/j.1399-0004.1979.tb01017.x
- language
- English
- LU publication?
- yes
- id
- 92b1f915-d902-41e2-8e0a-dfee9a92d2df
- date added to LUP
- 2016-10-26 13:47:00
- date last changed
- 2024-01-04 14:58:01
@article{92b1f915-d902-41e2-8e0a-dfee9a92d2df, abstract = {{<p>Fanconi's anaemia and haemophilia A are born inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic treatment.</p>}}, author = {{Ljung, R and Holmberg, Lars and Nilsson, K O and Thilén, A}}, issn = {{0009-9163}}, keywords = {{Abnormalities, Multiple; Anemia, Aplastic; Child; Factor VIII; Fanconi Anemia; Hemophilia A; Humans; Male; Thrombocytopenia; Case Reports; Journal Article}}, language = {{eng}}, number = {{5}}, pages = {{8--364}}, publisher = {{Wiley-Blackwell}}, series = {{Clinical Genetics}}, title = {{Fanconi's anaemia associated with haemophilia A}}, url = {{http://dx.doi.org/10.1111/j.1399-0004.1979.tb01017.x}}, doi = {{10.1111/j.1399-0004.1979.tb01017.x}}, volume = {{16}}, year = {{1979}}, }