In vivo dissociation of factor vii (ahf) activity and factor viii‐related antigen in von willebrand's disease

Lian, Eric Chun‐Yet; Deykin, Daniel

doi:10.1002/ajh.2830010108

Cited by 15 publications

(2 citation statements)

References 17 publications

(7 reference statements)

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“…In addition, the inheritance of severe vWD is almost always autosomal recessive, while most milder forms of vWD are transmitted in a dominant fashion. Though an increase in FVIII/vWF ratios has been found in some carriers of severe vWD (2) (11). The 1.9-kb probe (K2), generated by a Sac I digest of pDL34, extended 100 base pairs (bp) from the nucleotides encoding amino acid 2225 of pro-vWF into the 3' untranslated region.…”

Section: Introductionmentioning

confidence: 99%

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

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Glotz

Koziol

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

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Severe von Willebrand disease is characterized by undetectable or trace quantities of von Willebrand factor in plasma and tissue stores. We have studied the genomic DNA of 10 affected individuals from six families with this disorder using probes from the 5' and 3' ends of the vWF cDNA and with a probe extending from the 5' end into the central region. Southern blots of restriction endonuclease digests and gene dosage analysis measurements carried out with quantitative slot blots of undigested genomic DNA separated these patients into three groups. The first group consisted of a family with complete homozygous deletions of the vWF gene in the four probands. Gene dosage analysis was consistent with heterozygous deletions in both of the asymptomatic parents and four asymptomatic siblings of this kindred (P less than 0.01). The second group was comprised of a family in which there was a complete heterozygous deletion of the vWF gene in the proband and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent. Thus, the patient appeared to be doubly heterozygous for interacting genetic abnormalities affecting vWF expression. In the third group, no gene deletions could be detected. Alloantibodies developed only in the kindred with homozygous deletions. These techniques should prove useful in identifying carriers of severe von Willebrand disease and also in defining patients predictably at risk of developing alloantibodies to vWF.

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Section: Introductionmentioning

confidence: 99%

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

Ngo

Glotz

Koziol

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

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“…The details of the preparation of specific antihuman factor VIII antiserum are reported elsewhere (9).…”

Section: Preparation Of Antihuman Factor V I I I Antiserummentioning

confidence: 99%

In vivo and in vitro effects of thrombin and plasmin on human factor VIII (ahf)

1976

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The relationship between factor VIII (AHF) procoagulant activity and factor VIII-related antigen were examined in patients with disseminated intravascular coagulation (DIC), pulmonary embolism (PE), and coronary artery disease with or without myocardial infarction (MI). It was found that 13 of 13 patients with DIC, 17 of 17 patients with PE, and 10 of 12 patients with MI possessed a significantly elevated factor VIII-related antigen to factor VIII activity ratio (VIII-ratio). The VIII-ratio returned to normal in each of 2 patients with DIC and 1 paitent with PE after treatment with heparin, heparin and alpha-amino-caproic acid, and heparin and coumadin respectively. In contrast, the VIII-ratio was slightly elevated only in 1 of 15 patients with coronary artery insufficiency without MI. In in vitro studies, after treatment of plasma with thrombin or plasmin, factor VIII activity was lost, whereas the amount of factor VIII-related antigen remained the same or was even increased when measured by agarose quantitative immunoelectrophoresis. These observations have led us to conclude that an elevated VIII-ratio is a very sensitive indicator of intravascular coagulation.

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Combined deficiencies of factor vlll (ahf) and factor xi (pta)

1976

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Combined deficiencies of Factor VIII and Factor XI associated with moderate degree of bleeding symptoms were found in 3 brothers. Examination of Factor VIII activity and Factor VIII-related antigen revealed that the Factor VIII activity/Factor VIII-related antigen ratio was significantly decreased in their mother and maternal grandmother consistent with the carrier state of hemophilia. Factor XI deficiency was found in 2 siblings, the father, and 2 of his sisters. The paternal grandmother was thought to carry the abnormal Factor X I gene, although her Factor XI level was normal, because of a significant bleeding history. It was concluded that the combined Factor VIII and XI deficiencies in the 3 brothers represent the coincidental inheritance of 2 separate and independent abnormal genes.

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In vivo dissociation of factor vii (ahf) activity and factor viii‐related antigen in von willebrand's disease

Cited by 15 publications

References 17 publications

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

In vivo and in vitro effects of thrombin and plasmin on human factor VIII (ahf)

Combined deficiencies of factor vlll (ahf) and factor xi (pta)

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