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X Deficiency (x + deficiency)

Distribution by Scientific Domains
Medical Sciences100%

Kinds of X Deficiency

  • factor x deficiency
    		•

    Selected Abstracts

    Pregnancy in a patient with severe factor X deficiency

    HAEMOPHILIA, Issue 6 2009
    A. MAMOPOULOS
    No abstract is available for this article. [source]

    Intracranial haemorrhage in patients with congenital haemostatic defects

    HAEMOPHILIA, Issue 5 2008
    P. MISHRA
    Summary., We investigated 52 of 457 patients with congenital factor deficiencies with 57 episodes of intracranial haemorrhage (ICH) between 1998 and 2007. There were 38 severe haemophiliacs, 6 with factor XIII deficiency, 5 with factor X deficiency, 2 factor V-deficient patients, and 1 with type 3 von Willebrand disease (VWD). The median age was 8 years (range 1 month,22 years). Most patients were below 15 years of age (86.5%). All patients with factor X deficiency were between 1 and 5 months of age. ICH was the primary bleeding episode leading to detection of factor deficiency in 19.2% (five patients with severe haemophilia and all patients with factor X deficiency). Trauma caused bleeding in 66%. None of the patients with factor X deficiency had history of prior trauma. Surgery was performed in five patients with subdural haematomas, all of whom survived. Conservative factor replacement with 100% correction for 3 days followed by 50,60% correction for 7 days was possible in 60% patients. Seizures requiring prolonged therapy were noted in eight patients. Death was recorded in 15 patients (29%). Inadequate therapy in the form of delay or insufficient replacement was noted in 7/15 deaths. ICH was seen in 11.3% of all patients with coagulation factor deficiencies. Factor X deficiency presented with ICH at an earlier age. Inadequate replacement therapy including delayed treatment caused nearly 50% of all deaths. Most patients can be managed satisfactorily with adequate replacement therapy alone, with surgery being reserved for those with worsening neurological conditions. [source]

    Recurrent ovarian haemorrhage in a girl with congenital factor X deficiency

    HAEMOPHILIA, Issue 4 2008
    V. DADHWAL
    No abstract is available for this article. [source]

    Candida vertebra osteomyelitis in a girl with factor X deficiency

    HAEMOPHILIA, Issue 6 2005
    T. Gursel
    Summary., Candidal vertebra osteomyelitis is a rare condition which occurs primarily in immunocompromised patients. We report a 14-year-old girl with factor X deficiency who developed candida vertebra osteomyelitis during home therapy. The microorganism was probably from a contaminated peripheral cannula used for infusion of factor concentrate. This is the first such case in bleeding disorders to our knowledge. [source]

    Danazol therapy in factor X deficiency: more questions than answers

    HAEMOPHILIA, Issue 1 2002
    K. GHOSH
    No abstract is available for this article. [source]

    Danazol therapy in factor X deficiency

    HAEMOPHILIA, Issue 5 2001
    S. Mukhopadhyay
    Factor X (FX) deficiency is a rare coagulation disorder that usually presents with bleeding manifestations and is treated with fresh frozen plasma or prothrombin complex concentrates. We report a case of FX deficiency in which the patient presented with bleeding as well as thrombosis. The patient responded to Danazol and relapsed when the drug was stopped. The occurrence of thrombosis in FX deficiency and the role of Danazol in coagulopathies are reviewed. [source]

    Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate

    HAEMOPHILIA, Issue 2 2001
    P. A. Kouides
    Factor X (FX) deficiency is an autosomal recessive trait that occurs in fewer than 1 in 500 000 people. Not surprisingly, reports of prophylactic treatment for FX deficiency are exceedingly rare. We now report our experience of the use of prophylactic therapy in a FX-deficient patient. This 18-year-old African-American male presented at the age of 4½ years with an FX level < 1%. Treatment was on demand with prothrombin complex concentrates (PCCs) given at two times the dose per kilogram of body weight for factor IX. He experienced frequent epistaxis, soft tissue bleeding and joint bleeding. The development of a target joint (right ankle) prompted the initiation of prophylactic treatment in the beginning of 1998 to the present with 30 units kg,1 Profilnine twice per week via a home infusion programme. If breakthrough bleeding occurred, he was instructed to infuse another dose. He was instructed that Profilnine should not be infused in more than two doses in 24 h or on more than three consecutive days. A trough level drawn 48 h post-infusion showed an FX level of 30%. In the initial 12 months with prophylactic treatment, there was no breakthrough bleeding. Subsequently, with an additional 11 months of follow-up, he has reported one bleed. He rates his quality of life improved since starting prophylactic treatment. There have been no thrombotic events. Prophylaxis with PCC for FX deficiency with adequate education and follow-up can be performed capably in the home setting with a resultant decrease in the frequency of bleeding and attendant complications. [source]

    Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T,G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin

    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 7 2005
    G. JAYANDHARAN
    Summary., Factor X (FX) deficiency is a rare (1 : 100000) autosomal recessive disorder caused by heterogeneous mutations in FX gene. We have studied the molecular basis this disease in six Indian and one Nepali patients. Diagnosis was confirmed by measuring the FX coagulant activity (FX: C) using a PT based assay. Six of them had a FX: C of < 1% and one patient had 24% coagulant activity. Mutations were identified in all the seven patients. These included eight (88.8%) missense and one frame-shift (11.2%) mutations of which six were novel. Three of the novel mutations, a Phe31Ser affecting ,Gla' domain and 514delT and 516T,G mutations affecting Cys132 in ,connecting region' were identified in a triple compound heterozygous state in a Nepali patient presenting with a severe phenotype. Two other novel mutations, Gly133Arg, may affect the disulphide bridge between Cys132-Cys302 in the connecting region while Gly223Arg may perturb the catalytic triad (His236, Asp282 and Ser379). The other novel mutation, Ser354Arg, involves the replacement of a small-buried residue by a large basic aminoacid and is likely to have steric or electrostatic effects in the pocket involving Lys351-Arg347-Lys414 that contributes to the core epitope of FXa for binding to FVa. Three previously reported mutations, Thr318Met; Gly323Ser; Gly366Ser were also identified. This is the first report of the molecular basis of FX deficiency in patients from the Indian subcontinent. [source]

    Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients,

    AMERICAN JOURNAL OF HEMATOLOGY, Issue 3 2010
    Carrie A. Thompson
    Systemic light-chain (AL) amyloidosis may be associated with acquired factor X (FX) deficiency and optimal management of this coagulopathy is unknown. We reviewed our experience with 60 patients with isolated FX deficiency (,50%) due to AL amyloidosis that underwent an invasive procedure between 1975 and 2007. They were classified as having severe (<10%; n = 6), moderate (10,25%; n = 15), or mild (26,50%; n = 39) FX deficiency. The patients underwent a total of 112 procedures, 19 (17%) of which were managed with periprocedural treatment with one or more hemostatic agents. There were complications in 14 (13%) procedures (bleeding = 12, thrombosis = 1, death = 1). Baseline FX level was not predictive of bleeding risk; the only association with postintervention bleeding was central venous catheter placement. However, bleeding complications were relatively infrequent, particularly in patients with mild or moderate FX deficiency undergoing nonvascular procedures. Activated recombinant factor VII might be considered in patients undergoing major surgical procedures, but further experience is needed. Optimal management of AL patients with FX deficiency undergoing invasive procedures remains to be determined. Am. J. Hematol., 2010. © 2009 Wiley-Liss, Inc. [source]

    Different genotypes are responsible for the normal Russell viper venom assays seen in some cases of congenital factor X deficiency

    AMERICAN JOURNAL OF HEMATOLOGY, Issue 11 2008
    Antonio Girolami
    No abstract is available for this article. [source]

    Lupus anticoagulant associated with transient severe factor X deficiency: a report of two patients presenting with major bleeding complications

    BRITISH JOURNAL OF HAEMATOLOGY, Issue 4 2003
    Aneel A. Ashrani
    Summary. Acquired factor X (FX) deficiency is rare, but has been reported in diverse disease states, including systemic amyloidosis and respiratory infections. FX deficiency associated with lupus anticoagulant (LA) and a bleeding diathesis has not been previously reported. We report two patients both of whom presented with a severe bleeding diathesis after a preceding respiratory infection due to isolated FX deficiency associated with a LA. The FX deficiency and LA were transient. We conclude that patients with LA may rarely present with severe acquired FX deficiency. This may be another mechanism whereby patients with antiphospholipid antibodies present with bleeding complications. [source]