An Immunological Investigation of Hemophilia B with a Tentative Classification of the Disease into Five Variants<sup>1</sup>

Girolami, Antonio; Sticchi, Antonio; Burul, A; Zanon, R. Dal Bo

doi:10.1111/j.1423-0410.1977.tb00635.x

Cited by 19 publications

(4 citation statements)

References 14 publications

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“…A heterozygous pattern for FV R506Q mutation was found in the propositus whereas the mother showed a homozygous FV Leiden. On the basis of FIX activity and antigen levels, haemophilia B is usually subdivided into four categories, B), Bred, B+ and BM [14]. The propositus showed low levels of both FIX activity and antigen, and is therefore considered a case of B).…”

Section: Methodsmentioning

confidence: 99%

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

et al. 2001

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Haemophilia B patients with factor IX (FIX) activity < 1% are usually characterized by severe bleeding episodes early in life. We report a case of sporadic severe haemophilia B, clinically characterized by mild bleeding diathesis. The presence of anamnestic thrombophlebitis in the patient's mother prompted us to investigate a possible associated hypercoagulable condition. Resistance to activated protein C due to factor V R506Q mutation was present in the mother and in the propositus, in the homozygous and heterozygous form, respectively. Molecular analysis of the FIX gene led to the identification of a nonsense mutation resulting in a stop codon at position 50, previously described and usually responsible for a severe pattern of haemophilia B. The implications of this unusual association are discussed.

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Section: Methodsmentioning

confidence: 99%

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

et al. 2001

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“…(2) A low FVII defect has been noted in hemophilia B plasma possibly due to interference of the abnormal levels of FIX in the FVII assay (especially hemophilia Bm). The phenomenon is particularly evident when an ox brain thromboplastin is employed in the assay system [33]. (3) Some patients with hemophilia B show slightly decreased FVII activity.…”

Section: Discussionmentioning

confidence: 99%

“…The association of FVII with FIX deserves some extensive discussion [31,32,33,34,35]. There are, apparently, three conditions in which FVII may be decreased in hemophilia B patients.…”

Section: Discussionmentioning

confidence: 99%

Congenital Combined Defects of Factor VII: A Critical Review

Girolami¹,

Ruzzon²,

Tezza³

et al. 2006

Acta Haematol

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Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.

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“…In recent years a large number of haemophilia B pedigrees have been examined for the occurrence of abnormal factor IX molecules (Girolami et al, 1977;Kasper et al, 1977;Thompson, 1977;Bertina & Veltkamp, 1978;Parekh et al, 1978). The techniques used (inhibitor neutralization assay, electroimmunoassay and radioimmunoassay) are based on the recognition of, or part of, the structure of factor IX by specific antibodies (homologous or heterologous) against human factor IX (Roberts et al, 1968;0rstavik et al, 1975;Bertina &Van der Linden, 1977;Thompson, 1977).…”

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A Genetic Variant of Factor IX with Decreased Capacity for Ca²⁺ Binding

Bertina¹,

Veltkamp²

1979

Br J Haematol

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A genetic variant of factor IX is described that behaves identically to PIVKA/IX (the precursor factor IX molecule induced by the absence of vitamin K or presence of vitamin K antagonists, acarboxy factor IX). It shows an increased electrophoretic mobility in the presence of Ca2+, a low affinity for adsorption to A1(OH)3 and a very low specific coagulant activity. This variant of factor IX has been demonstrated in the plasma of a patient with severe haemophilia B and in the plasmas of a number of possible carriers from the probands' pedigree.

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An Immunological Investigation of Hemophilia B with a Tentative Classification of the Disease into Five Variants¹

Cited by 19 publications

References 14 publications

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

Congenital Combined Defects of Factor VII: A Critical Review

A Genetic Variant of Factor IX with Decreased Capacity for Ca²⁺ Binding

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An Immunological Investigation of Hemophilia B with a Tentative Classification of the Disease into Five Variants1

Cited by 19 publications

References 14 publications

Mild bleeding diathesis in a boy with combined severe haemophilia B (C10400→T) and heterozygous factor V Leiden

Mild bleeding diathesis in a boy with combined severe haemophilia B (C10400→T) and heterozygous factor V Leiden

Congenital Combined Defects of Factor VII: A Critical Review

A Genetic Variant of Factor IX with Decreased Capacity for Ca2+ Binding

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Product

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An Immunological Investigation of Hemophilia B with a Tentative Classification of the Disease into Five Variants¹

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

Mild bleeding diathesis in a boy with combined severe haemophilia B (C¹⁰⁴⁰⁰→T) and heterozygous factor V Leiden

A Genetic Variant of Factor IX with Decreased Capacity for Ca²⁺ Binding