Clinical Reviews and Opinions

  • Abbreviation: Clin. Rev. Opinions
  • Language: English
  • ISSN: 2141-2553
  • DOI: 10.5897/CRO
  • Start Year: 2009
  • Published Articles: 42

Review

Factor VIII genetic mutations and protein alterations in hemophilia A: A review

Nuzhat Jahan Faridi*
  • Nuzhat Jahan Faridi*
  • Department of Pathology, Ram Manohar Lohia Institute of Medical Sciences Lucknow, India.
  • Search for this author on:
  • Google Scholar
Praveen Kumar
  • Praveen Kumar
  • Department of Pathology, Ram Manohar Lohia Institute of Medical Sciences Lucknow, India.
  • Search for this author on:
  • Google Scholar
Nuzhat Husain
  • Nuzhat Husain
  • Department of Pathology, Ram Manohar Lohia Institute of Medical Sciences Lucknow, India.
  • Search for this author on:
  • Google Scholar
Mohammad Imran Siddiqi
  • Mohammad Imran Siddiqi
  • Department of Pathology, Ram Manohar Lohia Institute of Medical Sciences Lucknow, India.
  • Search for this author on:
  • Google Scholar


  •  Received: 20 April 2011
  •  Accepted: 20 May 2014
  •  Published: 31 May 2014

References

Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP (2003). Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients. Hematologica 88:17.
 
Ahmed RPH, Ivaskevicius V, Kannan M, Seifried E, Oldenburg J (2005). Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica 90:283-284.
 
Akkarapatumwong V, Oranwiroon S, Pung-amritt P, Treesucon A, Thanootarakul P (2000). Mutations of the Factor VIII Gene in Thai Hemophilia A Patients. Hum. Mutat. 15:117-118.
Crossref
 
Ananyeva NM, Lacroix-Desmazes S, Hauser CA, Shima M, Ovanesov MV, Khrenov AV, Saenko EL (2004). Inhibitors in hemophilia A: mechanisms of inhibition, management and perspectives. Blood Coag. Fibrinol. 15:109-124.
Crossref
 
Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Váradi A (2003). Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Hematologica 88:778-784.
 
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H (1995). Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 86(6):2206-2212.
PubMed
 
Arai M, Higuchi M, Antonarakis SE, Kazazian HH, Phillips JA, Janco RL, Hoyer LW (1990). Characterization of a thrombin cleavage site mutation (Arg1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. Blood 75:384-389.
PMid:2104766
 
Bagnall RD, Waseem N, Green PM, Giannelli F (2002). Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A. Blood 99:168-174.
Crossref
 
Bihoreau N, Pin S, de Kersabiec AM, Vidot F, Fontaine-Aupart MP (1994). Copper-atom identification in the active and inactive forms of plasma-derived FVIII and recombinant FVIII-delta II. Eur. J. Biochem. 222:41-48.
Crossref
 
Bogdanova N, Markoff A, Pollmann H, Nowak–Göttl U, Eisert R, Wermes (2005). Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Human Mutat. 26:249-254.
Crossref
 
Bolton-Maggs PHB, Pasi JK (2003). Haemophilias A and B. Lancet 361:1801-1809.
Crossref
 
Bowen DJ (2002). Hemophilia A and hemophilia B: molecular insights. J. Clin. Pathol. Mol. Pat. 55:1-18.
Crossref
 
Church WR, Jernigam RL, Tool J, Hewick RM (1984). Coagulation FV and FVIII and Ceruloplasmin constitute a family of structurally related protein. Proc. Natl. Acad. Sci. USA 81:6934.
Crossref
 
Cutler JA, Mitchell MJ, Smith MP, Savidge GF (2002). The identification and classification of 41 novel mutations in the FVIII gene. Hum. Mutat.19:274-278.
Crossref
 
dOiron R, Maurice-Lavengue J, Renaud, Lavend (2004). Deletion of a alaine 2201 in the FVIII C2 domain result in mild Hemophilia A by impairing FVIII binding to vWF and phospholipid and destroy a major FVIII antigens determinant. Blood 103:155-157.
 
Elder B, Lakich D, Gitschier J (1993). Sequence of the murine factor VIII cDNA. Genomics 16:374-379.
Crossref
 
El-Maarri O, Herbiniaux U, Graw J, Schroder J (2005). Analysis of mRNA in Hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J. Thromb. Haemost. 3:332-339.
Crossref
 
Enayat MS, Theophilus BD, Williams MD, Hill FG (1995). Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a hemophilia A family. Blood 85:2639.
PubMed
 
Ensenauer RE, Reinke SS, Ackerman MJ, Tester DJ, Whiteman DAH (2003). Primer on medical genomics part VIII: essentials of medical genetics for the practicing physician. Mayo Clin. Proc.78:846-857.
Crossref
 
Faridi NJ, Husain N, Siddiqi MI, Kumar P, Bamezai RNK (2011). Identification of Missense Mutations in Exon 16 of Factor VIII Gene in Mild and Moderate Cases With Hemophilia A. Clin. Appl. Thromb. Hemost 17:358-361.
Crossref
 
Fay PJ, Jenkins PV (2005). Mutating factor VIII: lesson from structure to function. Blood Rev. 19:15-27.
Crossref
 
Feng Xue, Lei Zhang, Tao Sui, Jing Ge, Dongsheng Gu, Weiting Du, Haifeng Zhao, Renchi Yang (2010). Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects. Eur. J. Haemat. 85:264-272.
Crossref
 
Fernandez-lopez O, Carcia-Lozana J, Nunez-Vazquez R, Rosailo PG, Antonio NR (2005). The spectrum of Mutations in Southern Spanish patients with Hemophilia A and identification of 28 novel mutations. Hematology 90:707-710.
 
Forbes CD, Aledort L, Madhok R (1997). The early history of hemophilia, Hemophilia. London: Chapman and Hall. pp. 3-6.
 
Foster PA, Fulcher CA, Houghter RA (1990). Synthetic factor VIII peptides with amino acid sequences contained within the C2 domains of FVIII inhibit binding to phoshatidylserine. Blood 75:1999-2004.
PubMed
 
Freije D, Schlessinger D (1992). A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. Am. J. Hum Genet. 51:66-80.
PubMed
 
Ghosh K, Shetty S, Mohanty D (2004). Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population. J. Thromb. Haemost. 2:1481-1482.
Crossref
 
Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM (1984). Characterization of the human factor VIII gene. Nature 312:326-330.
Crossref
 
Goodeve AC (2001). Unusual discrepant factor VIII:C assays in hemophilia A patients with TYR346CYS and GLU321LYS FVIII gene mutations. Thromb. Haemost (Suppl.). 13:70.
 
Goodeve AC, Peake IR (2003). The molecular basis of hemophilia A: genotype- phynotype relationship and inhibitor development. Semin. Thromb. haemost. 29:23-30.
Crossref
 
Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R (2005). Hemophilia A: from mutation analysis to new therapies. Nat. Rev. Genet. 6:488-501.
Crossref
 
Habart D, Kalabova D, Novotny M, Vorlova Z (2002). Thirty-four novel mutations detected in FVIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. J. Thomb. Haemt. 1:773-781.
 
Hakeos WH, Miao H, Sirachainan N, Kemball-Cook G, Saenko EL, Kaufman RJ, Pipe SW (2002). Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy. Thromb. Haemost. 88:781-787.
PubMed
 
Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK (1990). Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics 6:65-71.
Crossref
 
Hill Deam S, Gordon B, Dolan G (2005). Mutation analysis in 51 patients with hemophilia a report of 10 novel mutations and correlation between genotype and clinical phenotype. Hemophilia 11:133-141.
Crossref
 
Hua Bao-jai, Yan Zhen-yu, Liang Yan, Yan Mei (2010). Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with Hemophilia A. Chin. Med. J. 123:305-310.
 
Jacquemin M, Lavend homme R, Benhida A (2000). A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood 96:958-965.
PubMed
 
Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A (2005). Identification of factor VIII gene mutation in 101 patients with hemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modeling of 10 novel missense substitutions. Hemophilia 11:481-491.
Crossref
 
Jayandharan G, Shaji RV, George B, Chandy M, Srivastava A (2004). Informativeness of linkage analysis for genetic diagnosis of hemophilia A in India. Hemophilia 10:553-559.
Crossref
 
Kaufman RJ, Antonarakis SE, Fay PJ, Colman RW (2006). Factor VIII and hemophilia A, Basic Principles and Clinical Practice. Hemostat. Thromb.151:75.
 
Kaufman RJ, Pipe SW (1998). Can we improve on nature? Super molecule of FVIII. Hemophilia 20:3-19.
 
Kemball-Cook G, Tuddenham EGD, Wacey AI (1998). The factor VIII Mutation Database on the World Wide Web: The Hemophilia A Mutation, Search, Test and Resource site: HAMSTeRS Version 4. Nucl. Acids Res. 26:216-219.
Crossref
 
Lakich D, Kazazian HH, Antonarakis SE, Gitschier J (1993). Inversions disrupting the factor VIII gene are a common cause of severe Hemophilia A. Nat. Genet. 5:236-241.
Crossref
 
Lenting PJ, van Mourik JA, Mertens K (1998). The life cycle of coagulation factor VIII in view of its structure and function. Blood 92:3983-3996.
PubMed
 
Levinson B, Kenwrick S, Lakich D, Hammonds G, Jr,Gitschier J (1990). A transcribed gene in an intron of the human factor VIII gene. Genomics 7:1-11.
Crossref
 
Liu ML, Nakaya S, Thomson AR (2002). Non-inversion FVIII mutations in 80 Hemophilia A families including 24 with alloimmune responses. Thromb. Haemost 87:273-276.
PubMed
 
Liu ML, Shen BW, Nakaya S (2000). Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 96:979-87.
PubMed
 
Liu O, Sommer SS (1998). Subcycling PCR for multiplex long distance amplification of regions with high and low GC content: application to inversion hotspot in FVIII gene. Biotechniques 25:1022-1128.
PubMed
 
Luck JV, Silva M, Rodriguez-Merchan EC, Ghalambor N, Zahiri CA, Finn RS (2004). Hemophilic arthropathy. J. Am. Acad. Orthop. Surg. 12:234-245.
PubMed
 
Ma GC, Chang SP, Chen M, Kuo SJ, Chang CS (2008). The spectrum of the factor 8 (F8) defects in Taiwanese patients with hemophilia A. Hemophilia 14:787-795.
Crossref
 
McMullen BA, Fujikawa K, Davie EW, Hedner U, Ezban M (1995). Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor FVIII (antihemophilic factor A). Protein Sci. 4:740.
Crossref
 
Mumford AD, Laffan M, O'Donnell J, McVey JH, Johnson DJ, Manning RA, Kemball-Cook G (2002). A Tyr346–Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. Br. J. Haemotol. 118:589-594.
Crossref
 
Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F (1995). Investigation of the factor VIII intron 22 repeated regions (int22h) and the associated inversion junctions. Hum. Mol. Genet. 4:1217-1224.
Crossref
 
Nogami K, Shima M, Hosokawa K, Suzuki T, Koide T, Saenko EL, Scandella D, Shibata M, Kamisue S, Tanaka I, Yoshioka A (1999). Role of factor VIII C2 domain in factor VIII binding to factor Xa. J. Biol. Chem. 274:31000-31007.
Crossref
 
Oldenburg J, Ananyeva NM, Saenko EL (2004). Molecular basis of hemophilia A. Hemophilia 10:133-139.
Crossref
 
Pandey GS, Phadke SR, Mittal B (2002). Carrier analysis and prenatal diagnosis of hemophilia A in North India. Int. J. Mol. Med.10:661-664.
PubMed
 
Pattinson JK, McVey JH, Boon M, Ajani A, Tuddenham EG (1990). CRM+ hemophilia A due to a missense mutation (372–Cys) at the internal heavy chain thrombin cleavage site. Br. J. Haematol.75:73-77.
Crossref
 
Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE, Willemse J, Rosendaal FR (2006). Bleeding in carriers of hemophilia. Blood 108(1):52-56.
Crossref
 
Poustka A, Dietrich A, Langenstein G, Toniolo D, Warren ST, Lehrach H (1991). Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc. Natl. Acad. Sci. USA 88:8302-8306.
Crossref
 
Pratt KP, Shen BW, Takeshima K, Davie EW, Fujikawa K, Stoddard BL (1999). Structure of the C2 domain of human factor VIII at 1.5 A°resolution. Nature 402:439-442.
Crossref
 
Rossetti LC, Candela M, Bianco RP, de Tezanos Pinto M, Western A, Goodeve A, De Brasi CD (2004). Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe hemophilia A and a review of the literature. Blood Coagul. Fibrinolysis.15:569-572.
PubMed
 
Saenko EL, Shima M, Rajalakshmi KJ, Scandella D (1994). A role for the C2 domain of factor VIII in binding to von Willebrand factor. J. Biol. Chem. 269:11601-11605.
PubMed
 
Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L (2008). Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. J. Hum. Genet. 53:275-284.
Crossref
 
Shen BW, Spiegel PC, Chang CH, Huh JW, Lee JS, Kim J, Kim YH, Stoddard BL (2008). The tertiary structure and domain organization of coagulation factor VIII. Blood 111:1240-1247.
Crossref
Shetty S, Pathare A, Ghosh K (1998). Intron 22 inversions in factor VIII gene in Indian haemophiliacs. Thromb. Haemostat. 79:881.
PubMed
 
Stoilova-Mcphie S, Villoutreix BO, Merlens K, Kemball-Cook G (2002). 3-dimensional structure of membrane bond coaugulation factor VIII; modeling of the FVIII hetrodimer within a 3-dimension density map derived by electron crystallography. Blood 15:1215-1223.
Crossref
 
Tagliavacca L, Moon N, Dunham WR, Kaufman RJ (1997). Identification and functional requirement of Cu (I) and its ligands within coagulation FVIII. J. Biol. Chem. 28:272-274.
 
Thompson AR (2003). Structure and function of the factor VIII gene and protein. Semin. Thromb. Haemost. 29:11-22.
Crossref
 
Tizzano EF, Domenech M, Baiget M (1995). Inversion of intron 22 in isolated cases of severe hemophilia A. Thromb. Haemost. 73:6-9.
PubMed
 
Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EGD (1984). Structure of human factor VIII. Nature 312:337-342.
Crossref
 
Vidal F, Farssac E, Tusell J (2002). First molecular characterization of an unequal homologous Alu-mediated recombinent event responsible for hemophilia A. Thromb. Haemost. 88:12-16.
PubMed
 
Viot AJ, Koppelman SJ, Bourna BM, Sixma JJ (1998). Factor VIII and von Willebrand Factor. Thromb. Haemost. 79:456-465.
 
Waseem NM, Bagnall R, Green PM (1990). Hemophilia Centre. Start of UK hemophilia A database: analysis of 140 patients by solid phase fluorescent chemical cleavage of mismatch. Thromb. Haemost. 81(6):900-905.
 
Watzka M, Geisen C, Seifried E, Oldenburg J (2004). Sequence of the rat factor VIII cDNA. Thromb. Haemost 91:38-42.
PubMed
 
White GC, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J (2001). Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb. Haemost. 85:560.
PubMed

 

Copyright © 2024 Author(s) retain the copyright of this article.

This article is published under the terms of the Creative Commons Attribution License 4.0

Back to Vol. 6 No. 1
Back to articles
SUBSCRIBE TO RSS
SUBMIT MANUSCRIPT
CONFERENCES