Combined Factor VII and Factor VIII Deficiency Due to a Casual Association of Heterozygosis for Factor VII Deficiency and Hemophilia A

Girolami, Antonio; Zanon, R. Dal Bo; Fabris, Fabrizio; Franzoso, R

doi:10.1159/000207835

Cited by 9 publications

(12 citation statements)

References 8 publications

(13 reference statements)

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“…Three other families with combined defi ciency of factors VII and VIII have been satisfactorily documented [Gaston et al, 1961;Girolami et al, 1976Girolami et al, , 1977, The first report [Gaston et al, 1961] concerned a 22-year-old male with a factor VIII coagulant level of 1% and a factor VII level of 55% (but no family history of a bleeding tendency or family studies).…”

Section: Discussionmentioning

confidence: 99%

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Congenital Combined Factor VII and Factor VIII Deficiency

Machin¹,

Miller²

1980

Acta Haematol

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This paper describes two family members who have a combined hereditary deficiency of factors VII and VIII. The propositus, a 16-year-old male, presented with recurrent gastrointestinal bleeding. He and his mother had moderate defects of factors VII and VIII. The propositus received factor VIII cover, during and after a laparatomy. The possible hereditary transmission pattern of the combined defect is discussed.

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Section: Discussionmentioning

confidence: 99%

“…In the third family [Girolami et al, 1977] the mother of the propositus was a haemophilia A carrier and the father a het erozygote for factor VII deficiency. Here the combined deficiency appears to be due to the casual association of two indepen dently segregating defects.…”

Section: Discussionmentioning

confidence: 99%

Congenital Combined Factor VII and Factor VIII Deficiency

Machin¹,

Miller²

1980

Acta Haematol

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“…In one condition (named type I), there is a chance association between FVII deficiency and hemophilia A which seem to evolve independently. In other cases (named type 2), there seems to be a common defect involving both FVII and FVIII [14,15,16, 18]. The same appears to be true for the combined defect of FVII with FIX.…”

Section: Resultsmentioning

confidence: 89%

“…Factor VII is probably the most frequent among the rare coagulation disorders [4,5,6,7]. It has been described mainly in association with FV, FVIII or other clotting factors and with several bilirubin metabolism disorders [8,9,10,11,12,13,14,15,16,17,18,19,20,21]. The significance of these associations is not always clear.…”

Section: Introductionmentioning

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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“…The term type II should be limited to those patients showing a similar depression in factor VII and factor VIII and no heterozygosis for factor VII deficiency in the relatives. On the contrary, type I combined deficiency should be limited to those cases representing a causal associa tion of heterozygosis for factor VII deficiency and hemophilia A [4], The patient studied by Gaston et al [1] belongs perhaps to this (1) number of reported cases too small to draw sure conclusion group. We say 'perhaps' because, unfortu nately, no family members were studied.…”

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confidence: 98%