| 1. |
- Holmberg, Lars, et al.
(författare)
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Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX
- 1980
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Ingår i: Blood. - 0006-4971. ; 56:3, s. 397-401
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Tidskriftsartikel (refereegranskat)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 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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| 2. |
- Ljung, R, et al.
(författare)
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Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis
- 1982
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 22:2, s. 70-75
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Tidskriftsartikel (refereegranskat)abstract
- Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.
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| 3. |
- Nilsson, I. M., et al.
(författare)
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Suppression of Secondary Antibody Response by Intravenous Immunoglobulin in a Patient with Haemophilia B and Antibodies
- 1983
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Ingår i: Scandinavian Journal of Haematology. - : Wiley. - 0036-553X. ; 30:5, s. 458-464
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Tidskriftsartikel (refereegranskat)abstract
- A 39‐year‐old patient, suffering from severe haemophilia B and antibodies against factor IX, has twice been treated with extracorporeal protein A‐Sepharose adsorption followed by conventional substitution therapy in combination with immunosuppression (cyclophos‐phamide). On both occasions, separated by a 2‐year interval, the same procedure was followed except that, on the second, administration of i.v. immunoglobulin (Gammonativ, KabiVitrum) was added. Within a week of the first treatment the patient developed a 15‐fold increase in the antibody titre. Following the second treatment described here, no secondary antibody response could be detected, and after a further 12 weeks only traces of antibodies are demonstrable. It seems that antibody synthesis was suppressed by the i.v. immunoglobulin. No evidence was found to demonstrate that the effect was due either to a non‐specific suppression of the immune and reticuloendothelial systems or to the action of interfering antibodies. It has not yet been established whether or not the protein A‐Sepharose adsorption technique, or the immunosuppressive treatment, contributed in any way to the result. The observations suggest a new approach to the treatment of haemophiliacs with antibodies of the high‐responding type.
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