Combined Factor V and Factor VII Deficiency

Rotoli, Bruno; D’Avino, Rossana; Chiurazzi, Federico

doi:10.1159/000206867

Cited by 13 publications

(11 citation statements)

References 2 publications

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“…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: 61%

“…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: 99%

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Congenital combined deficiency of coagulation factors

Naderi

Tabibian

Hosseini

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

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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.

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Section: Discussioncontrasting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

Congenital combined deficiency of coagulation factors

Naderi

Tabibian

Hosseini

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

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show abstract

“…In genetic defects of single coagulation factors, the relationship of severity of clinical symptoms with the plasma factor level is evaluated. However, the data available from published reports show wide variation with regard to clinical manifestations in cases of combined FV and FVIII deficiency [9]. Many mechanisms have been proposed to explain this mysterious dual deficiency.…”

Section: Introductionmentioning

confidence: 99%

Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north‐eastern Iran

et al. 2004

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Of the six types of dual coagulation factors deficiency, combined factors V and VIII are the most common type, a few cases of this disease have been reported in different populations. This accounts for the relatively low number of cases reported so far. Our report, which included 19 patients, is the second largest group that has been reported from one centre in north-eastern Iran. The most frequent spontaneous bleeding symptoms were epistaxis and haemarthrosis, and the most frequent traumatic bleeding symptoms were bleeding after dental extraction and bleeding after cutting any part of the body. It seemed that dual coagulation FV and FVIII deficiency is as severe as single coagulation factor (V or VIII) deficiency.

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“…exact biochemical basis of the postulated RBC mem brane defect in CX has not been clarified. On the oth er hand, congenital factor VII deficiency has already been described associated with abnormalities in other coagulation factor deficiencies [10][11][12] and other pathological conditions such as Gilbert syndrome or Dubin-Johnson disease [13][14][15]. To our knowledge, however, the occurrence of hereditary factor VII defi ciency and the leaky red cell syndrome in the same family has not been previously described.…”

Section: Introductionmentioning

confidence: 98%

Occurrence of Hereditary Leaky Red Cell Syndrome and Partial Coagulation Factor VII Deficiency in a Spanish Family

Corrons¹,

Besson²,

Merino³

et al. 1991

Acta Haematol

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A Spanish family was found to have the coexistence of a hereditary haemolytic syndrome associated with excessively leaky RBC membrane to sodium (Na⁺) and potassium (K⁺) cations and a partial coagulation factor VII deficiency. Haemolysis was mild in the propositus and the RBC membrane leak included a marked increase in passive permeability to Na⁺ and K⁺. This was associated with an increase in active Na⁺, K⁺-pump activity and in the ouabain-resistant fluxes: Na⁺, K⁺-cotransport and Na⁺, Li⁺-countertransport. Factor VII deficiency was of 50% and no clinical expression of the coagulation deficiency was observed. The family study revealed slightly abnormal RBC membrane cationic fluxes only in the father and decreased coagulation factor VII activity of 67% in the mother. Both parents were clinically and haematologically normal. It is suggested that the propositus has inherited the abnormal gene for leaky RBC syndrome from the father and the partial coagulation factor VII deficiency from the mother.

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Combined Factor V and Factor VII Deficiency

Cited by 13 publications

References 2 publications

Congenital combined deficiency of coagulation factors

Congenital combined deficiency of coagulation factors

Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north‐eastern Iran

Occurrence of Hereditary Leaky Red Cell Syndrome and Partial Coagulation Factor VII Deficiency in a Spanish Family

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