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VIII Deficiency (viii + deficiency)

Distribution by Scientific Domains
Medical Sciences100%

Kinds of VIII Deficiency

  • factor viii deficiency
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    Selected Abstracts

    ORIGINAL ARTICLE Laboratory science: Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency

    HAEMOPHILIA, Issue 5 2010
    H. E. ABDALLAH
    Summary., Combined factor V (FV) and factor VIII (FVIII) deficiency (F5F8D) is a rare autosomal recessive disorder caused by mutations in LMAN1 or MCFD2 genes which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to Golgi apparatus. We report two novel mutations in MCFD2 gene and one recurrent mutation in LMAN1 gene that caused combined FV and FVIII deficiency in two unrelated Tunisian Muslim families. For the first family two patients were homozygous for a new missense mutation Asp81His in exon 3 of MCFD2 and heterozygous for a second new missense mutation Val100Asp in the same exon. Replacement respectively of the hydrophilic Asp residue with hydrophobic positively charged His and of the hydrophobic neutral Val residue with the Asp residue most likely disrupts the MCFD2,LMAN1 interaction, thus leading to the disease phenotype. For the second family a reported Arg202X mutation in exon 5 in the LMAN1 gene was identified in the homozygous state. [source]

    Prophylactic recombinant factor VIIa in haemophilia patients with inhibitors

    HAEMOPHILIA, Issue 3 2005
    G. Young
    Summary., Prevention of bleeding, especially into joints, with prophylactic factor infusions is the most effective treatment for severe haemophilia patients. Approximately 15,30% of patients with factor VIII deficiency and 3,5% of patients with factor IX deficiency develop neutralizing antibodies (inhibitors) to factor precluding their use. Such patients often have significant bleeding complications including life- and limb-threatening bleeds and severe joint disease. Prophylaxis for such patients is not generally considered because of the fact that the standard (bypassing) agents for such patients are not as effective as natural factor replacement, because of concerns for thrombotic complications and also because of the very high cost of bypassing agents. We treated two patients with high titre inhibitors with prophylactic recombinant factor VIIa (rFVIIa). The first patient was treated as a result of development of a target joint and to reduce the use of agents that can lead to anamnesis of his inhibitor. The second patient had multiple severe bleeds and was hospitalized 20% of the time over a 2-year period. He had a very poor quality of life. Both patients had shown good responses previously to rFVIIa for treatment of bleeds. Both patients had an outstanding response to prophylaxis albeit at a very high cost. Prophylaxis with rFVIIa can be an effective approach in select inhibitor patients with severe complications related to bleeding. [source]

    Experimental haemophilic synovitis: rationale and development of a murine model of human factor VIII deficiency

    HAEMOPHILIA, Issue 3 2004
    L. A. Valentino
    Summary., Haemophilia is a genetic disease as a result of the deficiency of blood coagulation factor VIII or IX. Bleeding is common, especially into joints where an inflammatory, proliferative synovitis develops resulting in a debilitating arthritis, haemophilic arthropathy. The pathogenesis of blood-induced haemophilic synovitis (HS) is poorly understood. The gross, microscopic and ultrastructural changes that occur in the synovial membrane following human and experimental hemarthrosis have been described. Repeated episodes of bleeding induce synoviocyte hypertrophy and hyperplasia, an intense neovascular response and inflammation of the synovial membrane. The component(s) in blood that initiates these changes is(are) not known, although iron is often proposed as one possibility. Here, we describe a novel murine model of human haemophilia A, which facilitates the examination of large number of animals and tissue specimens. The effects of hemarthrosis on the physical, gross and microscopic changes evoked following joint bleeding are described. Controlled, blunt trauma to the knee joint consistently resulted in joint swelling because of a combination of bleeding and inflammation. Hemosiderin was found in the synovial membrane. Similar to hemarthrosis in human haemophilia, joint bleeding resulted in acute morbidity evidenced by inactivity, weight loss and immobility. With time the animals recovered. The model of experimental murine HS described here has utility in the study of the pathogenesis of HS. This is the first of a series of articles, which will discuss the pathophysiology and characterize the model, with comparison of his model to others which have been published previously. It should provide a useful model to test potential therapeutic interventions. [source]

    A global view on prophylaxis: possibilities and consequences

    HAEMOPHILIA, Issue 2003
    A. D. Shapiro
    Summary., Prophylactic infusion therapy, both primary and secondary, has proven of great benefit to patients with haemophilia, specifically those with severe disease or bleeding episodes and patterns that have lead to development of arthropathy. At this time, optimal outcome in patients with severe haemophilia has been proven achievable with primary prophylaxis initiated at an early age in a regimen of three times weekly or every other day for patients with factor VIII deficiency, and twice weekly for those with factor IX deficiency. Despite the demonstrated benefit of primary prophylaxis, this treatment regimen has not been uniformly adopted into clinical practice even in developed countries. In developing countries, where issues of allocation of precious health care resources are of paramount importance, access to adequate treatment for persons with haemophilia on a programme of on-demand therapy is not commonly available; the cost of primary prophylaxis, even with intermediate purity plasma-derived factor concentrates or plasma fractions such as cryoprecipitate, renders this treatment the exception rather than the rule. [source]

    Inherited coagulation disorders in southern Iran

    HAEMOPHILIA, Issue 6 2002
    M. Karimi
    Summary., A comprehensive survey concerning the Shiraz Hemophilia Society and the associated haemophilia treatment centre was undertaken in April 2002 to collect data on demographics, signs and symptoms in the southern Iranian population with haemophilia and allied disorders. The total number of patients with coagulation disorders was 367. Haemophilia A (factor [F] VIII deficiency) was found in 271, 39 had haemophilia B (FIX deficiency) and 24 had von Willebrand disease. The rare coagulation disorders (n = 33) included 11 patients with FX deficiency; 10 with FVII; six with FXIII; two with afibrinogenaemia; two with FXI; one with combined FVIII and FV; and one with combined FVII, FVIII and FIX deficiency. The prevalence was 6.64 per 100 000 inhabitants. The most common symptoms were haemarthrosis, haematomas and epistaxis. None of the patients were human immunodeficiency virus positive but 47 (15%) were hepatitis C virus positive and two (0.7%) were hepatitis B positive, so that the rate of transfusion-transmitted infections was lower compared with other populations. [source]

    Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay

    HAEMOPHILIA, Issue 1 2001
    K. Ghosh
    During the course of investigations we encountered 11 patients with haemophilia A who had severe factor VIII deficiency as measured by one-stage assay but had surprisingly mild clinical presentation. Four of these patients had either a brother, nephew or maternal uncle with severe clinical manifestations. Two patients had low protein S levels, and one was heterozygous for the factor V Leiden mutation. One patient had a combined deficiency of protein C and antithrombin III. Four patients had a two-stage factor VIII assay value that was much higher than the one-stage assay value. Five patients were heterozygous for the MTHFR gene C677T polymorphism, of whom two patients were also deficient for protein S and one had two-stage factor assay values higher than the one-stage assay values. The patient who was both factor VIII deficient and heterozygous for factor V Leiden had mild clinical presentation as compared to his maternal uncle who was only factor-VIII deficient. The maternal cousin of the same patient was heterozygous for factor V Leiden and had suffered two thrombotic episodes. Thus, the present study advocates that the physiological inhibitors of blood coagulation also play an important role in cases of haemophilia A in the final outcome of haemostasis in vivo. [source]

    Successful management of intramural ureteral hemorrhage in a patient with factor VIII deficiency and high-titer inhibitor

    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 12 2004
    A. AMERI
    [source]

    Cosegregation of a Factor VIII Microsatellite Marker with Mild Hemophilia A in Golden Retriever Dogs

    JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 2 2005
    Marjory B. Brooks
    Mild hemophilia A (factor VIII deficiency) was diagnosed in Golden Retrievers and pedigree studies were undertaken to test the cosegregation of an intragenic factor VIII marker with the disease phenotype. The study population consisted of 30 client-owned dogs (22 males and 8 females). Hemophilic males (n = 12) typically demonstrated prolonged bleeding after trauma or surgery rather than spontaneous hemorrhagic events. The affected males had a proportionate reduction in factor VIII coagulant activity (mean FVIII:C = 4%) and factor VIII protein concentration (mean FVIII:Ag = 3%). Twenty-five dogs (10 affected males, 8 clear males, 2 obligate carrier dams, and 5 suspect carrier daughters) were genotyped for a factor VIII microsatellite marker, with allele size assigned by an automated capillary electrophoresis system. Five distinct marker alleles were present in the study pedigree and a 300-base pair allele was found to segregate with the hemophilia A phenotype. The inheritance of the hemophilia-associated allele defined carrier status for 5 suspect daughters of obligate carrier dams. The limitations inherent to linkage analyses (ie, lack of access to key family members and homozygosity at the marker locus) did not preclude carrier detection in this pedigree. We conclude that genotype analysis for the intragenic factor VIII marker can aid in control of canine hemophilia A through enhanced carrier detection. [source]

    Clinical manifestations of combined factor V and VIII deficiency: A series of 37 cases from a single center in India,

    AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2010
    Auro Viswabandya
    No abstract is available for this article. [source]

    Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene

    BRITISH JOURNAL OF HAEMATOLOGY, Issue 3 2007
    Edmond S. K. Ma
    No abstract is available for this article. [source]

    Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A

    BRITISH JOURNAL OF HAEMATOLOGY, Issue 2 2002
    Claudine Mazurier
    Summary. In this study, we reinvestigated a 20-year-old woman, the first cousin of two brothers with severe haemophilia A. This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency. We identified a novel FVIII gene mutation in the family and demonstrated that the FVIII deficiency in this female patient did not result from this gene mutation, but was linked to molecular defects in the von Willebrand factor gene. [source]