Genomes and Genes
factor x deficiency
Summary: Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption.
- Tai S, Herzog R, Margaritis P, Arruda V, Chu K, Golden J, et al. A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. J Thromb Haemost. 2008;6:339-45 pubmed..This viable low-FX mouse model will facilitate the development of FX-directed therapies as well as investigation of the FX role in embryonic development. ..
- Mishra K, Kumar A, Mishra D. Hereditary coagulation factor X deficiency. Indian Pediatr. 2005;42:1240-2 pubmed..Hematological findings in correlation with clinical manifestations revealed severe factor X deficiency.
- Dewerchin M, Liang Z, Moons L, Carmeliet P, Castellino F, Collen D, et al. Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. Thromb Haemost. 2000;83:185-90 pubmed
- Thompson C, Kyle R, Gertz M, Heit J, Pruthi R, Pardanani A. Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. Am J Hematol. 2010;85:171-3 pubmed publisher..Optimal management of AL patients with FX deficiency undergoing invasive procedures remains to be determined. ..
- Kouides P, Kulzer L. Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate. Haemophilia. 2001;7:220-3 pubmed..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. ..
- Jayandharan G, Viswabandya A, Baidya S, Nair S, Shaji R, George B, et al. 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. J Thromb Haemost. 2005;3:1482-7 pubmed..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. ..
- Adam Z, Matýková M, Krejci M, Pour L, Kissova J, Slechtova M, et al. [A patient with AL amyloidosis and severe factor X deficiency has been in complete haematological remission with normal factor X activity for 7 years following high-dose chemotherapy. A case study and literature review]. Vnitr Lek. 2010;56:67-78 pubmed
- Atmani S, Aouragh R, El Alaoui K, Bouharrou A, Hida M. Congenital factor X deficiency of coagulation revealed by epistaxis. Saudi Med J. 2006;27:1265-6 pubmed
- Brenner B, Tavori S, Zivelin A, Keller C, Suttie J, Tatarsky I, et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol. 1990;75:537-42 pubmed..Serum vitamin K epoxide levels were undetectable. The data suggest that the defect in our patient stems from abnormal carboxylation of the vitamin K-dependent proteins and that the mode of inheritance is autosomal recessive. ..
- Camire R, Ann Denchy R, Day G, Lanzano P, Sheth S, Brown S. Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism. Prenat Diagn. 2003;23:457-60 pubmedTo present a family in which it was possible to perform prenatal diagnosis for recessively inherited factor X deficiency using both direct mutation detection as well as linkage analysis...
- Pinotti M, Marchetti G, Baroni M, Cinotti F, Morfini M, Bernardi F. Reduced activation of the Gla19Ala FX variant via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency. Thromb Haemost. 2002;88:236-41 pubmed..The study of this FX deficiency provides an "in vivo" and "in vitro" model for the investigation of Gla domain interactions. ..
- Chilcott J, Russell G, Mumford A. Combined deficiency of factors VII and X: clinical description of two cases and management of spinal surgery. Haemophilia. 2006;12:555-8 pubmed
- Manikkan A. Factor X deficiency: an uncommon presentation of AL amyloidosis. Ups J Med Sci. 2012;117:457-9 pubmed publisherb>Factor X deficiency is the most common coagulation factor deficiency amongst patients with AL amyloidosis. It presumably occurs due to adsorption of factor X to amyloid fibrils...
- Naz A, Jamal M, Amanat S, Din Ujjan I, Najmuddin A, Patel H, et al. Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions. Orphanet J Rare Dis. 2017;12:66 pubmed publisher..5%), factor X deficiency in 2 (0.7%), factor II deficiency in 2 (0...
- Senturk S, Guzel E, Bayrak A, Bukte Y, Guzel A. Factor X deficiency presenting with bilateral chronic subdural hematoma. Pediatr Neurosurg. 2010;46:54-7 pubmed publisherb>Factor X deficiency is a rare coagulation defect that can result in several hemorrhagic manifestations including central nervous system hematomas in infants and children...
- Sanchorawala V, Wright D, Seldin D, Dember L, Finn K, Falk R, et al. An overview of the use of high-dose melphalan with autologous stem cell transplantation for the treatment of AL amyloidosis. Bone Marrow Transplant. 2001;28:637-42 pubmed
- McMahon C, Smith J, Goonan C, Byrne M, Smith O. The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency. Br J Haematol. 2002;119:789-91 pubmed..All children have normal joint function, suggesting that prophylaxis commenced early in life reduces the incidence of arthropathy and improves quality of life. ..
- Bednarek Skublewska A, Majdan M, Targońska Stepniak B, Ksiazek A. [Secondary amyloidosis connected with neoplasma of urinary bladder and acquired disorders of blood coagulation. Case report]. Pol Arch Med Wewn. 2006;116:868-72 pubmed..Progressive deterioration of renal function required hemodialysis, but he died one year later. ..
- McMahon M, James A. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy. Obstet Gynecol. 2001;97:808-9 pubmed..The remainder of her postpartum course was normal. Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin K and fresh frozen plasma. ..
- Asselta R. Factor X Shanghai: a mutation disrupting translocation to the endoplasmic reticulum. Haematologica. 2005;90:1590 pubmed
- Girolami A, Scarparo P, Vettore S, Candeo N, Scandellari R, Lombardi A. Unexplained discrepancies in the activity--antigen ratio in congenital FX deficiencies with defects in the catalytic domain. Clin Appl Thromb Hemost. 2009;15:621-7 pubmed publisher..The study analyzes the need to have a multipronged approach to the study of congenital FX deficiency. The indication of a mutation in a given domain does not provide clear information about the phenotype. ..
- Hainmann I, Oldenburg J, Pavlova A, Superti Furga A, Zieger B. Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency. Hamostaseologie. 2009;29:184-6 pubmedThe genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c...
- Mishra P, Naithani R, Dolai T, Bhargava R, Mahapatra M, Dixit A, et al. Intracranial haemorrhage in patients with congenital haemostatic defects. Haemophilia. 2008;14:952-5 pubmed publisher..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)...
- Karimi M, Menegatti M, Afrasiabi A, Sarikhani S, Peyvandi F. Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. Haematologica. 2008;93:934-8 pubmed publisherb>Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It is one of the most severe recessive inherited coagulation disorders...
- Jennes S, Saidane G, Fauville J, Ledoux M, Colinet B. Transient selective factor X deficiency in a severely burned child. Burns. 2008;34:1037-40 pubmed
- Papadopoulou V, Ioannou S, Levidou G, Variami E, Kouzis P, Siakantaris M. Systemic mastocytosis accompanied by a non-secretory plasma cell dyscrasia and nephrotic syndrome-level proteinuria in a 76-year-old patient. Acta Haematol. 2014;131:78-83 pubmed publisher..This is a unique report of systemic mastocytosis with a non-secretory plasma cell dyscrasia and nephrotic syndrome. The pathophysiological relevance between these entities along with the probability of occult amyloidosis is discussed. ..
- Gupta N, Dadhwal V, Deka D, Jain S, Mittal S. Corpus luteum hemorrhage: rare complication of congenital and acquired coagulation abnormalities. J Obstet Gynaecol Res. 2007;33:376-80 pubmed..2 was two episodes of hemoperitoneum from luteal cyst rupture in a young patient with the rare congenital factor X deficiency. This patient was managed conservatively with fresh frozen plasma and blood transfusion...
- Haberal M, Basaran O, Sakallioğlu A, Kesik E, Alioglu B, Ozbek N. Acquired-transient factor X deficiency associated with anticardiolipin antibodies in a child with extensive burns. J Burn Care Res. 2006;27:113-6 pubmed..Treatment with plasmapheresis, steroids, and intravenous immunoglobulin was successful. Hypertrophic scar formation was the only issue during 7 months of follow-up. ..
- White G. Antenatal cell gene transfer: an immunological Trojan horse?. J Thromb Haemost. 2003;1:14-5 pubmed
- Schüttrumpf J, Milanov P, Roth S, Seifried E, Tonn T. [Non-viral gene transfer results in therapeutic factor IX levels in haemophilia B mice]. Hamostaseologie. 2008;28 Suppl 1:S92-5 pubmed..The high expression obtained in small animals give hope for further development of non-viral gene transfer for the treatment of hemophilia B in humans. ..
- Jin Y, Hao X, Cheng X, Yang L, Chen Y, Xie H, et al. [Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:296-9 pubmed publisher..A homozygous mutation g.27881G>A(p.Val298Met) of the F10 gene has been identified, which probably accounts for the low FX concentrations in this pedigree. ..
- Shen M, Lin J, Lin D, Lin S, Lin B. A novel mutation with Ins C (882-883) of the factor X gene in a Taiwanese Chinese factor X-deficient family. Thromb Haemost. 2004;91:208-9 pubmed
- Hsia C, Keeney M, Bosco A, Xenocostas A. Treatment of acquired factor X inhibitor by plasma exchange with concomitant intravenous immunoglobulin and corticosteroids. Am J Hematol. 2008;83:318-20 pubmed..However, therapy utilizing plasma exchange with concomitant intravenous immunoglobulin and corticosteroids resulted in a rapid and sustained normalization of factor X levels with a clinical hemostatic response. ..
- Bereczky Z, Bardos H, Komáromi I, Kiss C, Haramura G, Ajzner E, et al. Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency. Haematologica. 2008;93:299-302 pubmed publisher..Both Gly204 FX and Arg204 FX were synthesized in transfected cells, but only the wild type protein became secreted. The mutant protein was diverted from the normal secretory pathway and retained at the trans Golgi-late endosome level. ..
- Alscher D. [How can factor X deficiency in nephropathy explained?]. Dtsch Med Wochenschr. 2003;128:1072 pubmed
- Sun N, Chen Y, Peng H, Luo Y, Zhang G. A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity. Thromb Res. 2016;138:108-113 pubmed publisher..Our findings demonstrated that the Ala275Val substitution is a pathogenic mutation that causes the inherited FX deficiency. ..
- Girolami A, Vettore S, Scarparo P, Lombardi A. Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era. Haemophilia. 2011;17:17-20 pubmed publisher..By using this nosographic approach, all reported cases of FX deficiency can be adequately allocated to one of these groups. ..
- Singh V, Kakkar T, Digra S, Kakkar M. Factor X deficiency: a rare cause of puberty menorrhagia. Indian J Pediatr. 2013;80:607-8 pubmed publisherb>Factor X deficiency is an extremely rare coagulation defect inherited as an autosomal recessive disorder with variable bleeding manifestations...
- Yasunaga C, Suehisa E, Toku M, Kawasaki T, Hidaka Y. Frequencies of mild factor V, VII and X deficiencies in a Japanese population. Blood Coagul Fibrinolysis. 2008;19:597-600 pubmed publisher..These results suggest that the Japanese population has relatively high frequencies of mild factor V, factor VII and factor X deficiencies, in which activity is reduced to approximately 50% (36-64%) of normal plasma. ..
- Payne J, MacLean R, Hampton K, Baxter A, Makris M. Haemoperitoneum associated with ovulation in women with bleeding disorders: the case for conservative management and the role of the contraceptive pill. Haemophilia. 2007;13:93-7 pubmed..We describe three patients presenting with haemoperitoneum in association with factor VII deficiency, factor X deficiency and sitosterolaemia...
- De Jager E, Bieger R, Castel A, Kluin P. Successful treatment of an acquired haemorrhagic diathesis due to factor X deficiency with chemotherapy. Eur J Haematol. 2001;66:352-4 pubmedA 70-yr-old woman presented with a severe haemorrhagic diathesis due to an acquired factor X deficiency. A plasma infusion study showed that exogenous factor X was eliminated very effectively from the patient's circulation...
- Hoffman M, Monroe D. The action of high-dose factor VIIa (FVIIa) in a cell-based model of hemostasis. Dis Mon. 2003;49:14-21 pubmed..Our data suggest that in a cellular system high-dose FVIIa acts primarily by enhancing the rate of thrombin generation on platelet surfaces and not by overcoming inhibition by zymogen FVII of TF-dependent activation of FX. ..
- Gollard R, Rahman S, Ratnasabapathy R. Factor X inhibitor: a fulminant presentation and fatal course of a rare syndrome in a 59-year-old male. Acta Haematol. 2013;129:40-4 pubmed publisher..We report a new case of a factor X inhibitor and review prior cases of both factor X inhibitors and non-amyloidosis-related acquired factor X deficiencies. ..
- Thomas A, Stirling D. Four factor deficiency. Blood Coagul Fibrinolysis. 2003;14 Suppl 1:S55-7 pubmed..Expression studies are being completed so that this region can be definitively ascribed as a cis-acting element involved in gene regulation. ..
- Herrmann F, Navarette M, Salazar Sanchez L, Carillo J, Auerswald G, Wulff K. Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage. J Pediatr. 2005;146:128-30 pubmed..Five patients are homozygous for the mutation Gly380Arg and one for the novel deletion Tyr163delAT. We describe the association of these mutations with ICH bleeding. ..
- Anwar M, Hamdani S, Ayyub M, Ali W. Factor X deficiency in North Pakistan. J Ayub Med Coll Abbottabad. 2004;16:1-4 pubmedb>Factor X deficiency is one of the most rare hereditary coagulation disorders. In populations where rate of consanguineous marriages is high, rare hereditary disorders also flourish. Pakistan is one of those countries...
- Simioni P, Vianello F, Kalafatis M, Barzon L, Ladogana S, Paolucci P, et al. A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian fami. Thromb Res. 2001;101:219-30 pubmed..X Lys(408)-->Asn substitution. This is the first characterisation of a naturally occurring F.X variant with a mutation at the COOH-terminal end of the molecule. ..
- Romagnolo C, Burati S, Ciaffoni S, Fattori E, Franchi M, Zanon E, et al. Severe factor X deficiency in pregnancy: case report and review of the literature. Haemophilia. 2004;10:665-8 pubmedIsolate factor X deficiency is an extremely rare clotting factor disorder inherited in autosomal recessive fashion and pregnancy in a homozygous patient is frequently complicated by recurrent miscarriage, uterine bleeding and premature ..
- Iwadate D, Hasegawa E, Hoshino J, Hayami N, Sumida K, Yamanouchi M, et al. The long-term Outcomes after VAD plus SCT Therapy in a Patient with AL Amyloidosis and Severe Factor X Deficiency. Intern Med. 2017;: pubmed publisher..4 g/day) with lambda-type Bence-Jones protein (BJP). Primary AL amyloidosis and acquired factor X deficiency were diagnosed. High-dose melphalan combined with autologous stem cell transplantation was performed...
- Auerswald G. Prophylaxis in rare coagulation disorders -- factor X deficiency. Thromb Res. 2006;118 Suppl 1:S29-31 pubmed..In all cases, the bleeding episodes are well controlled without any serious treatment-related complications. ..
- Dorgalaleh A, Zaker F, Tabibian S, Alizadeh S, Dorgalele S, Hosseini S, et al. Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. Blood Coagul Fibrinolysis. 2016;27:324-7 pubmed publisherCongenital factor X deficiency is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner...
- Barker B, Altuntas F, Paranjape G, Sarode R. Presurgical plasma exchange is ineffective in correcting amyloid associated factor X deficiency. J Clin Apher. 2004;19:208-10 pubmed..5 volume PE with fresh frozen plasma (FFP), his post-exchange FX was only 5%, indicating rapid adsorption of FX to amyloid fibrils. He was managed successfully with FEIBA during surgery. ..