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Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX

Holmberg, Lars LU ; Gustavii, B LU ; Cordesius, E; Kristoffersson, A C LU ; Ljung, R LU ; Löfberg, L; Strömberg, P and Nilsson, Inga Marie (1980) In Blood 56(3). p.397-401
Abstract

An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/dl. Six amniotic fluids contained 0.28-1.2 U/dl factor IX antigen. Using the immunoradiometric assay, we could diagnose hemophilia B prenatally in one fetus at risk. No factor IX antigen (< 0.2 U/dl) was detectable in the fetoscopic sample. After termination of the pregnancy, analysis of blood from the abortus confirmed the diagnosis of... (More)

An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/dl. Six amniotic fluids contained 0.28-1.2 U/dl factor IX antigen. Using the immunoradiometric assay, we could diagnose hemophilia B prenatally in one fetus at risk. No factor IX antigen (< 0.2 U/dl) was detectable in the fetoscopic sample. After termination of the pregnancy, analysis of blood from the abortus confirmed the diagnosis of severe hemophilia B. We conclude that very sensitive immunologic assays, such as the one described here, will prove useful in prenatal diagnosis of severe hemophilia B, since determination of factor IX activity in fetoscopic samples is unrealiable because of possible contamination with thromboplastic material.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Dose-Response Relationship, Immunologic, Factor IX, Female, Hemophilia B, Humans, Male, Pregnancy, Prenatal Diagnosis, Radioimmunoassay, Case Reports, Journal Article
in
Blood
volume
56
issue
3
pages
5 pages
publisher
American Society of Hematology
external identifiers
  • Scopus:0019216022
ISSN
0006-4971
language
English
LU publication?
yes
id
d65e9fc5-3fe9-4b3e-8f92-791957ad2cc1
date added to LUP
2016-10-26 13:30:54
date last changed
2016-11-27 04:43:40
@misc{d65e9fc5-3fe9-4b3e-8f92-791957ad2cc1,
  abstract     = {<p>An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/dl. Six amniotic fluids contained 0.28-1.2 U/dl factor IX antigen. Using the immunoradiometric assay, we could diagnose hemophilia B prenatally in one fetus at risk. No factor IX antigen (&lt; 0.2 U/dl) was detectable in the fetoscopic sample. After termination of the pregnancy, analysis of blood from the abortus confirmed the diagnosis of severe hemophilia B. We conclude that very sensitive immunologic assays, such as the one described here, will prove useful in prenatal diagnosis of severe hemophilia B, since determination of factor IX activity in fetoscopic samples is unrealiable because of possible contamination with thromboplastic material.</p>},
  author       = {Holmberg, Lars and Gustavii, B and Cordesius, E and Kristoffersson, A C and Ljung, R and Löfberg, L and Strömberg, P and Nilsson, Inga Marie},
  issn         = {0006-4971},
  keyword      = {Dose-Response Relationship, Immunologic,Factor IX,Female,Hemophilia B,Humans,Male,Pregnancy,Prenatal Diagnosis,Radioimmunoassay,Case Reports,Journal Article},
  language     = {eng},
  number       = {3},
  pages        = {397--401},
  publisher    = {ARRAY(0x94af510)},
  series       = {Blood},
  title        = {Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX},
  volume       = {56},
  year         = {1980},
}