Scand J Haematol. 1985 May;34(5):401-5.

Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study.

Rahim Adam KA, Al Rahman F, el Seed A, Karrar ZA, Gader AM.

Abstract

Combined deficiency of factor V and factor VIII, a rare bleeding disorder, is reported in a Syrian family. 2 siblings, 10 and 6 yr old are affected. They had mild bleeding manifestations. Their prothrombin time and partial thromboplastin time were prolonged, but thrombin time was normal. Both had low levels of factor V, (6% and 7%), factor VIII, (both 10%) factor VCAg (both 6%) and factor VIII CAg, (6% and 4%). All members of this family had normal levels of factor VIIIR:Ag, protein C, antigen and protein C inhibitor. The normal levels of protein C and protein C inhibitor in the 2 affected family members indicate that the combined deficiency of factors V and VIII has nothing to do with protein C. This contrasts with previous reports that deficiency of protein C inhibitor is the cause of combined factor V and factor VIII deficiency. The probable mode of inheritance of this defect is discussed.

PMID:: 2990022; [PubMed - indexed for MEDLINE]

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Combined factor V/VIII deficiency: a case report including levels of factor V and factor VIII coagulant and antigen as well as protein C inhibitor. [Am J Hematol. 1985]
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Cited by 2 PubMed Central articles

The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. [Am J Hum Genet. 1997]
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.
Neerman-Arbez M, Antonarakis SE, Blouin JL, Zeinali S, Akhtari M, Afshar Y, Tuddenham EG. Am J Hum Genet. 1997 Jul; 61(1):143-50.
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. [J Clin Invest. 1997]
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Nichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D. J Clin Invest. 1997 Feb 15; 99(4):596-601.

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Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study.

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