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Genetic variants of haemophilia B detected by immunoradiometric assay : implications for prenatal diagnosis

Ljung, R LU and Holmberg, Lars LU (1982) In Pediatric Research 16(3). p.8-256
Abstract

Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a... (More)

Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a possible variant of haemophilia B Leyden, earlier described in a few families with moderately severe disease. No haemophilia BM variants, characterized by prolonged prothrombin time with bovine brain thromboplastin, were found. We have shown earlier that the immunoradiometric assay of f.IX was useful in the prenatal evaluation of one fetus at risk for haemophilia B. The present study shows that the assay can be applied for prenatal diagnostic purposes in the vast majority of carriers of severe haemophilia B and in about half of the carriers of moderately severe disease.

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author
organization
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type
Contribution to journal
publication status
published
subject
keywords
Antigens, Factor IX, Female, Genetic Counseling, Hemophilia B, Humans, Male, Pedigree, Pregnancy, Prenatal Diagnosis, Radioimmunoassay, Twins, Journal Article, Research Support, Non-U.S. Gov't
in
Pediatric Research
volume
16
issue
3
pages
3 pages
publisher
International Pediatric Foundation Inc.
external identifiers
  • Scopus:0020054457
ISSN
0031-3998
DOI
10.1203/00006450-198203000-00019
language
English
LU publication?
yes
id
4c1526ad-754a-4b2e-9201-1d126e7ea213
date added to LUP
2016-10-26 13:27:03
date last changed
2016-10-30 04:50:57
@misc{4c1526ad-754a-4b2e-9201-1d126e7ea213,
  abstract     = {<p>Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a possible variant of haemophilia B Leyden, earlier described in a few families with moderately severe disease. No haemophilia BM variants, characterized by prolonged prothrombin time with bovine brain thromboplastin, were found. We have shown earlier that the immunoradiometric assay of f.IX was useful in the prenatal evaluation of one fetus at risk for haemophilia B. The present study shows that the assay can be applied for prenatal diagnostic purposes in the vast majority of carriers of severe haemophilia B and in about half of the carriers of moderately severe disease.</p>},
  author       = {Ljung, R and Holmberg, Lars},
  issn         = {0031-3998},
  keyword      = {Antigens,Factor IX,Female,Genetic Counseling,Hemophilia B,Humans,Male,Pedigree,Pregnancy,Prenatal Diagnosis,Radioimmunoassay,Twins,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {3},
  pages        = {8--256},
  publisher    = {ARRAY(0xdb0ec68)},
  series       = {Pediatric Research},
  title        = {Genetic variants of haemophilia B detected by immunoradiometric assay : implications for prenatal diagnosis},
  url          = {http://dx.doi.org/10.1203/00006450-198203000-00019},
  volume       = {16},
  year         = {1982},
}