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2148 Part XII: Hemostasis and Thrombosis Chapter 124: Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII 2149
163. Bernardi F, Liney DL, Patracchini P, et al: Molecular defects in CRM+ factor VII defi- 195. Fujikawa K, Coan MH, Legaz ME, Davie EW: The mechanism of activation of bovine
ciencies: Modeling of missense mutations in the catalytic domain of FVII. Br J Haematol factor X (Stuart factor) by intrinsic and extrinsic pathways. Biochemistry 13:5290,
86:610, 1994. 1974.
164. Hunault M, Arbini AA, Lopaciuk S, et al: The Arg353,Gln polymorphism reduces the 196. Kisiel W, Hermodson MA, Davie EW: Factor X activating enzyme from Russell’s viper
level of coagulation factor VII: In vivo and in vitro studies. Arterioscler Thromb Vasc venom: Isolation and characterization. Biochemistry 15:4901, 1976.
Biol 17:2825, 1997. 197. Furie B, Furie BC: The molecular basis of blood coagulation. Cell 53:505, 1988.
165. Green F, Kelleher C, Wilkes H, et al: A common genetic polymorphism associated with 198. Neurath H: Evolution of proteolytic enzymes. Science 224:350, 1984.
lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb 11:540, 199. Rudolph AE, Mullane MP, Porche-Sorbet R, et al: Factor X St. Louis II. Identification
1991. of a glycine substitution at residue 7, and characterization of the recombinant protein.
166. Bernardi F, Marchetti G, Pinotti M, et al: Factor VII gene polymorphisms contribute J Biol Chem 271:28601, 1996.
about one-third of the factor VII level variation in plasma. Arterioscler Thromb Vasc 200. Pinotti M, Marchetti G, Baroni M, et al: Reduced activation of the Gla19Ala FX variant
Biol 16:72, 1996. via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency.
167. Marchetti G, Gemmati D, Patracchini P, et al: PCR detection of a repeat polymorphism Thromb Haemost 88:236, 2002.
within the F7, gene. Nucleic Acids Res 19:4570, 1991. 201. De Stefano V, Leone G, Ferrelli R, et al: Factor X Roma: A congenital factor X variant
168. Ragni MV, Lewis JH, Spero JA, Hasiba U: Factor VII deficiency. Am J Hematol 10:79-88, defective at different degrees in the intrinsic and the extrinsic activation. Br J Haematol
1981. 69:387, 1988.
169. Kulkarni AA, Lee CA, Kadir RA: Pregnancy in women with congenital factor VII defi- 202. James HL, Girolami A, Fair DS: Molecular defect in coagulation factor X Friuli results
ciency. Haemophilia 12:413, 2006. from a substitution of serine for proline at position 343. Blood 77:317, 1991.
170. Rizk DE, Castella A, Shaheen H, Deb P: Factor VII deficiency detected in pregnancy: A 203. Akhavan S, Chafa O, Obame FN, et al: Recurrence of a Phe31Ser mutation in the Gla
case report. Am J Perinatol 16:223, 1999. domain of blood coagulation factor X, in unrelated Algerian families: A founder effect?
171. Mariani G, Herrmann FH, Schulman S, et al: Thrombosis in inherited factor VII defi- Eur J Haematol 78:405, 2007.
ciency. J Thromb Haemost 1:2153, 2003. 204. Menegatti M, Vangone A, Palla R, et al: A recurrent Gly43Asp substitution in coagula-
172. Girolami A, Berti de Marinis G, Vettore S, Girolami B: Congenital FVII Deficiency and tion Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellu-
Pulmonary Embolism: A Critical Appraisal of All Reported Cases. Clin Appl Thromb lar trafficking. Thromb Res 133:481, 2014.
Hemost 19:55, 2013. 205. Herrmann FH, Auerswald G, Ruiz-Saez A, et al: Factor X deficiency: Clinical manifes-
173. Rosen ED, Chan JC, Idusogie E, et al: Mice lacking factor VII develop normally but tation of 102 subjects from Europe and Latin America with mutations in the factor 10
suffer fatal perinatal bleeding. Nature 390:290, 1997. gene. Haemophilia 12:479, 2006.
174. Chan JC, Carmeliet P, Moons L, et al: Factor VII deficiency rescues the intrauterine 206. Peyvandi F, Mannucci PM, Lak M, et al: Congenital Factor X deficiency: Spectrum of
lethality in mice associated with a tissue factor pathway inhibitor deficit. J Clin Invest bleeding symptoms in 32 Iranian patients. Br J Haematol 102:626, 1998.
103:475, 1999. 207. Romagnolo C, Burati S, Ciaffoni S, et al: Severe factor X deficiency in pregnancy: Case
175. Napolitano M, Giansily-Blaizot M, Dolce A, et al: Prophylaxis in congenital factor VII report and review of the literature. Haemophilia 10:665, 2004.
deficiency: Indications, efficacy and safety. Results from the Seven Treatment Evalua- 208. Kumar M, Mehta P: Congenital coagulopathies and pregnancy: Report of four preg-
tion Registry (STER). Haematologica 98:538, 2013. nancies in a factor X-deficient woman. Am J Hematol 46:241, 1994.
176. Mariani G, Konkle BA, Ingerslev J: Congenital factor VII deficiency: Therapy with 209. Larrain C: Congenital blood coagulation factor X deficiency. Successful result of the use
recombinant activated factor VII—A critical appraisal. Haemophilia 12:19, 2006 prothrombin concentrated complex in the control of caesarean section hemorrhage in 2
177. Tcheng WY, Donkin J, Konzal S, Wong WY: Recombinant factor VIIa in a patient with pregnancies. Rev Med Chil 122:1178, 1994.
severe congenital factor VII deficiency. Haemophilia 10:295, 2004. 210. Dewerchin M, Liang Z, Moons L, et al: Blood coagulation factor X deficiency causes
178. Berrettini M, Mariani G, Schiavoni M, et al: Pharmacokinetic evaluation of recombi- partial embryonic lethality and fatal neonatal bleeding in mice. Thromb Haemost
nant, activated factor VII in patients with inherited factor VII deficiency. Haematologica 83:185, 2000.
86:640, 2001. 211. Rosen ED, Cornelissen I, Liang Z, et al: In utero transplantation of wild-type fetal liver
179. Robertson LE, Wasserstrum N, Banez E, et al: Hereditary factor VII deficiency in cells rescues factor X-deficient mice from fatal neonatal bleeding diatheses. J Thromb
pregnancy: Peripartum treatment with factor VII concentrate. Am J Hematol 40:38, Haemost 1:19, 2003.
1992. 212. Tai SJ, Herzog RW, Margaritis P, et al: A viable mouse model of factor X deficiency
180. Aynaoğlu G, Durdağ GD, Ozmen B, Söylemez F: Successful treatment of hereditary provides evidence for maternal transfer of factor X. J Thromb Haemost 6:339, 2008.
factor VII deficiency presented for the first time with epistaxis in pregnancy: A case 213. Karimi M, Vafafar A, Haghpanah S, et al: Efficacy of prophylaxis and genotype-
report. J Matern Fetal Neonatal Med 23:1053, 2010. phenotype correlation in patients with severe Factor X deficiency in Iran. Haemophilia
181. Braun MW, Triplett DA: Case report: Factor VII deficiency in an obstetrical patient. 18:211, 2012.
J Indiana State Med Assoc 72:900, 1979. 214. Rosenthal RL, Dreskin OH, Rosenthal N: A new hemophilia like disease caused by
182. Fadel HE, Krauss JS: Factor VII deficiency and pregnancy. Obstet Gynecol 73:453, 1989. deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med 82:171,
183. Eskandari N, Feldman N, Greenspoon JS: Factor VII deficiency in pregnancy treated 1953.
with recombinant factor VIIa. Obstet Gynecol 99:935, 2002. 215. Rapaport SI, Proctor RR, Patch NJ, Yettra M: The mode of inheritance of PTA defi-
184. Jimenez-Yuste V, Villar A, Morado M, et al: Continuous infusion of recombinant acti- ciency: Evidence for the existence of major PTA deficiency and minor PTA deficiency.
vated factor VII during caesarean section delivery in a patient with congenital factor Blood 18:149, 1961.
VII deficiency. Haemophilia 6:588, 2000. 216. Seligsohn U: High gene frequency of factor XI (PTA) deficiency in Ashkenazi-Jews.
185. Pike GN1, Bolton-Maggs PH. Factor deficiencies in pregnancy. Hematol Oncol Clin Blood 51:1223, 1978.
North Am 25:359, 2011. 217. Mannhalter C, Hellstern P, Deutsch E: Identification of a defective factor XI cross-react-
186. Baumann kreuziger LM, Morton CT, Reding MT: Is prophylaxis required for delivery ing material in a factor XI-deficient patient. Blood 70:31, 1987.
in women with factor VII deficiency? Haemophilia 19,827, 2013. 218. Zivelin A, Ogawa T, Bulvik S, et al: Severe factor XI deficiency caused by a Gly to
555
187. Duckert F, Fluckinger P, Matter M, Koller F: Clotting factor X. Physiologic and physico- Glu mutation (factor XI-Glu555): A cross-reactive material positive variant defective in
chemical properties. Proc Soc Exp Biol Med 90:17, 1955. factor IX activation. J Thromb Haemost 2:1782, 2004.
188. Telfer TP, Denson KW, Wright DR: A “new” coagulation defect. Br J Haematol 2:308, 219. Quelin F, Trossaert M, Sigaud M, et al: Molecular basis of severe factor XI deficiency
1956. in seven families from the west of France. Seven novel mutations, including an ancient
189. Hougie C, Barrow EM, Graham JB: Stuart clotting defect. I. Segregation of an heredi- Q88X mutation. J Thromb Haemost 2:71, 2004.
tary hemorrhagic state from the heterogeneous group heretofore called “stable factor” 220. Martincic D, Zimmerman SA, Ware RE, et al: Identification of mutations and polymor-
(SPCA, proconvertin, factor VII) deficiency. J Clin Invest 36:485, 1957. phisms in the factor XI genes of an African-American family by dideoxy fingerprinting.
190. Bajaj SP, Mann KG: Simultaneous purification of bovine prothrombin and factor Blood 92:3309, 1998.
X. Activation of prothrombin by trypsin-activated factor X. J Biol Chem 248:7729, 221. McMullen BA, Fujikawa K, Davie EW: Location of the disulfide bonds in human
1973. coagulation factor XI: The presence of tandem apple domains. Biochemistry 30:2056,
191. Ichinose A, Takeya H, Espling E, et al: Amino acid sequence of human protein Z, a 1991.
vitamin K-dependent plasma glycoprotein. Biochem Biophys Res Commun 172:1139, 222. Papagrigoriou E, McEwan PA, Walsh PN, Emsley J: Crystal structure of the factor XI
1990. zymogen reveals a pathway for transactivation. Nat Struct Mol Biol 13:557, 2006.
192. Leytus SP, Foster DC, Kurachi K, Davie EW: Gene for human factor X: A blood coagu- 223. Zucker M, Zivelin A, Landau M, et al: Three residues at the interface of factor XI mono-
lation factor whose gene organization is essentially identical with that of factor IX and mers augment covalent dimerization of factor XI. J Thromb Haemost 7:970, 2009.
protein C. Biochemistry 25:5098, 1986. 224. Wu W, Sinha D, Shikov S, et al: Factor XI homodimer structure is essential for normal
193. McMullen BA, Fujikawa K, Kisiel W, et al: Complete amino acid sequence of the light proteolytic activation by factor XIIa, thrombin, and factor XIa. J Biol Chem 283:18655,
chain of human blood coagulation factor X: Evidence for identification of residue 63, as 2008.
beta-hydroxyaspartic acid. Biochemistry 22:2875, 1983. 225. Cheng Q, Kantz J, Poffenberger G, et al: Factor XI protein in human pancreas and kid-
194. Jackson CM: Characterization of two glycoprotein variants of bovine factor X and ney. Thromb Haemost 100:158, 2008.
demonstration that the factor X zymogen contains two polypeptide chains. Biochemistry 226. Thompson RE, Mandle R Jr, Kaplan AP: Association of factor XI and high molecular
11:4873, 1972. weight kininogen in human plasma. J Clin Invest 60:1376, 1997.
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