Hereditary Factor VII and IX Deficiencies in a Large Kindred

Hall, C A; A, London; Moynihan, Amy; Dodds, W J

doi:10.1111/j.1365-2141.1975.tb01826.x

Cited by 13 publications

(13 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several case reports of FVII deficiency in combination with deficiencies of FV, FVIII, FIX, FX, FXI and dysfibrinogenemia have been published so far [4][5][6][7][8][9][10]15]. However, we did not find any study reporting dual deficiency of FVII and FXIII.…”

Section: Discussioncontrasting

confidence: 68%

“…However, only a few cases of this disease have been reported in different parts of the world [2,3]. Even at a low rate, cases of combined FV-FVII, FVII-FVIII, FVII-FIX, FVII-FX, FVII-FXI and FVIII-FIX deficiencies have also been reported [4][5][6][7][8][9][10][11]. There is a high rate of consanguineous marriages in Sistan and Baluchistan Province in the south-east of Iran, which leads to high prevalence of inherited bleeding disorders, increasing the likelihood of detecting cases of otherwise not identifiable combined deficiencies.…”

Section: Introductionmentioning

confidence: 93%

See 1 more Smart Citation

Congenital combined deficiency of coagulation factors

Naderi

Tabibian

Hosseini

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

Combined deficiency of coagulation factors is considered as an extremely rare bleeding disorder (RBD) inherited in an autosomal recessive pattern. This disorder is more likely to occur in regions with a high rate of consanguineous marriages or in restricted communities. Sistan and Baluchistan, a province in southeast of Iran with a high rate of consanguinity, is a clear model of such regions with a very high prevalence of recessively inherited disorders. The aim of this study was to report the frequency of combined factor deficiency in this province. This descriptive study was conducted on 358 patients with RBD. Demographic information and medical history of each patient were recorded, and the patients were examined by a physician. Routine screening tests were carried out for all patients, and further coagulation tests including coagulation factor activity and antigen assays were subsequently performed for all suspected patients. Among 358 patients, four were found to be affected with combined factor (F)V and FVIII deficiency (F5F8D). In addition, one patient with combined deficiency of FVII-FXIII, one with combined FVII-FX and one with combined FVIII-FIX deficiency were identified. In Sistan and Baluchistan Province, coinheritance of recessively inherited disorders like combined coagulation factor deficiencies was surprisingly higher than expected.

show abstract

Section: Discussioncontrasting

confidence: 68%

Section: Introductionmentioning

confidence: 93%

Congenital combined deficiency of coagulation factors

Naderi

Tabibian

Hosseini

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

show abstract

“…In one family, deficiency of Factor X was sometimes associated with a deficiency in Factor VII (13). In other cases, a functional deficiency of prothrombin was associated with deficiencies of Factors VII or X (14,15), and in one kindred deficient Factor VII and Factor IX activities were independently inherited (16).…”

mentioning

confidence: 99%

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.

Goldsmith¹,

Pence²,

Ratnoff³

et al. 1982

J. Clin. Invest.

View full text Add to dashboard Cite

A B S T R A C T Two siblings with mild hemorrhagic symptoms had combined functional deficiencies of vitamin K-dependent clotting factors. Prothrombin (0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) were most severely affected. Antigenic amounts of affected coagulation factors were normal and normal generation of thrombin activity occurred in the patients' plasmas after treatment with nonophysiologic activators that do not require calcium for prothrombin activation. Hepatobilary disease, malabsorptive disorders, and plasma warfarin were not present. Both parents had normal levels of all coagulation factors. The patients' plasmas contained prothrombin that reacted both with antibody directed against des-y-carboxyprothrombin and native prothrombin. Crossed immunoelectrophoresis of patients' plasmas and studies of partially purified patient prothrombin suggested the presence of a relatively homogeneous species of dysfunctional prothrombin, distinct from the heterologous species found in the plasma of warfarin-treated persons. These studies are most consistent with a posttranslational defect in hepatic carboxylation of vitamin K-dependent factors. This kindred uniquely possesses an autosomal recessive disorder of vitamin K-dependent factor formation that causes production of an apparently homogeneous species of dysfunctional prothrombin; the functional deficiencies in clotting factors are totally corrected by oral or parenteral administration of vitamin KI.

show abstract

“…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%

“…In this case, an independent segregation of the two defects is evident, and patients with isolated heterozygous FVII deficiency occur in the family. The form appears to be very rare since only one family met these criteria [34]. (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).…”

Section: Discussionmentioning

confidence: 99%

Congenital Combined Defects of Factor VII: A Critical Review

Girolami¹,

Ruzzon²,

Tezza³

et al. 2006

Acta Haematol

View full text Add to dashboard Cite

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.

show abstract

Hereditary Factor VII and IX Deficiencies in a Large Kindred

Cited by 13 publications

References 11 publications

Congenital combined deficiency of coagulation factors

Congenital combined deficiency of coagulation factors

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors.

Congenital Combined Defects of Factor VII: A Critical Review

Contact Info

Product

Resources

About