Three cases of abnormal fibrinogens: Šumperk (Bβ His67Leu), Uničov (Bβ Gly414Ser), and Brno (γArg275His)

Thrombosis and Haemostasis

Volumn 100, Issue 6, 2008, Pages 1199-1200

  Kotlín, Roman ^a   Reicheltová, Zuzana ^a   Sobotková, Alžběta ^a   Suttnar, Jiří ^a   Salaj, Peter ^a   Pospíšilová, Dagmar ^b   Smejkal, Petr ^c   Chrastinová, Leona ^a   Dyr, Jan E ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^b UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^c UNIVERSITY HOSPITAL BRNO   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FIBRINOGEN VARIANT; GLYCINE; HISTIDINE; LEUCINE; SERINE;

AMINO ACID SUBSTITUTION; CHROMOSOME 4; DNA SEQUENCE; DYSFIBRINOGENEMIA; EXON; GENE CLUSTER; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPOFIBRINOGENEMIA; LETTER; LIVER CELL; MISSENSE MUTATION; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AFIBRINOGENEMIA; BLOOD COAGULATION; CHILD; FEMALE; FIBRINOGEN; FIBRINOGENS, ABNORMAL; HUMANS; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PROTEIN CONFORMATION; YOUNG ADULT;

EID: 57349140684     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-07-0446     Document Type: Letter

References (20)

1. Henschen AH, McDonagh J. Fibrinogen, fibrin and factor XIII. In: Blood Coagulation. Amsterdam, Elsevier Science Publishers 1986: 171-241.
2. Kant JA, Fornace AJ, Saxe D, et al. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA 1985; 82: 2344-2348.
3. Hanss M, Biot F. A Database for Human Fibrinogen Variants. Ann N Y Acad Sci 2001; 936: 89-90. http://www.geht.org/databaseang/fibrinogen (September 2008, release 28).
4. Hill MB, Brennan SO, Dear A, et al. Fibrinogen Nottingham II: A novel B β Arg264gly substitution causing hypofibrinogenaemia. Thromb Haemost 2006; 96: 378-380.
5. Sheen CR, Low J, Joseph J, et al. Fibrinogen Darlinghurst: Hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications. Thromb Haemost 2006; 96: 685-687.
6. Monaldini L, Asselta R, Duga S, et al. Mutational screening of six afibrinogenemic patients: Identification and characterization of four novel molecular defects. Thromb Haemost 2007; 97: 546-551.
7. Brennan SO, Davis RL, Mosesson MW, et al. Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a γ320Asp deletion at the Ca2+ binding site. Thromb Haemost 2007; 98: 467-469.
8. Davis RL, Brennan SO. Fibrinogen Tolaga Bay: A novel γAla341Val mutation causing hypofibrinogenaemia. Thromb Haemost 2007; 98: 1136-1138.
9. Flood VH, Al-Mondhiry HA, Rein CM, et al. Fibrinogen Hershey IV: A novel dysfibrinogen with a γV411I mutation in the integrin αIIbβ3 binding site. Thromb Haemost 2008; 99: 1008-1012.
10. Kotlín R, Chytilová M, Suttnar J, et al. A novel fibrinogen variant - Praha I: hypofibrinogenemia associated with γ 351 Gly → Ser substitution. Eur J Haematol 2007; 78: 410-416.
11. Kotlín R, Chytilová M, Suttnar J, et al. Fibrinogen Nový Jičín and Praha II: Cases of hereditary Aalpha 16 Arg - >Cys and Aalpha 16 Arg - >His dysfibrinogenemia. Thromb Res 2007; 121: 75-84.
12. Kotlín R, Sobotková A, Suttnar J, et al. A novel fibrinogen variant - Liberec: dysfibrinogenaemia associated with γ Tyr262Cys substitution. Eur J Haematol 2008; 81: 123-129.
13. Clauss A. Gerinnungsphysiologische Schnellmethode zur Bestimmung des Fibrinogens. Acta Haematol 1957; 17: 237-246.
14. Vu D, Bolton-Maggs PHB, Parr JR, et al. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. Blood 2003; 10: 4413-4415.
15. Czwalinna A, Lennemann K, Varvenne M, et al. Detection of expression of three missense mutations in the Bb fibrinogen gene resulting in a- and/or hypofibrinogenemia. J Thromb Haemost 2005, 3: 1377.
16. Duga S, Asselta R, Santagostino E, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000, 95: 1336-1341.
17. Monaldini L, Asselta R, Duga S, et al. Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bβ-chain gene. Haematologica 2006; 91: 628-633.
18. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-462.
19. Imafuku Y, Tanaka K, Takahashi K, et al. Identification of a dysfibrinogenemia of γR275C (Fibrinogen Fukushima). Clin Chim Acta 2002; 325: 151-156.
20. Zhang JZ, Redman CM. Identification of B beta chain domains involved in human fibrinogen assembly. J Biol Chem 1992; 267: 21727-21732.