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Fanconi's anaemia associated with haemophilia A

Ljung, R LU orcid ; Holmberg, Lars LU ; Nilsson, K O LU and Thilén, 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.

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author
; ; and
organization
publishing date
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
  • pmid:519907
  • scopus:0018731797
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
2025-10-14 10:34:52
@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}},
}