Factor XI deficiency in Southern Iran: Identification of a novel missense mutation

Annals of Hematology

Volumn 88, Issue 4, 2009, Pages 359-363

  Karimi, Mehran ^a   Jafari, Hamta ^a   Lahsaeizadeh, Saba ^a   Afrasiabi, Abdolreza ^a   Akbari, Ahmad ^a   Dehbozorgian, Javad ^a   Ardeshiri, Rezvan ^a   Guella, Ilaria ^b   Asselta, Rosanna ^b   Peyvandi, Flora ^b,c  

^a SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Deficiency; Factor XI; Missense; Mutation; Southern Iran

Indexed keywords

BLOOD CLOTTING FACTOR 11;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CHILD; EXON; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTRON; IRAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

BLOOD COAGULATION DISORDERS; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR XI DEFICIENCY; FEMALE; HUMANS; INFANT, NEWBORN; IRAN; MALE; MUTATION, MISSENSE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 60749120844     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0595-4     Document Type: Article

References (17)

1. Hill M, McLeod F, Franks H, Gordon B, Dolan G (2005) Genetic analysis in FXI deficiency: Six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. Br J Haematol 129:825-829. doi: 10.1111/j.1365-2141.2005.05536.x
2. Peyvandi F, Lak M, Mannucci PM (2002) Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia. Haematologica 87:512-514
3. Seligsohn U (2007) Factor XI in haemostasis and thrombosis: Past, present and future. Thromb Haemost 98:84-89
4. Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ (2005) Factor XI deficiency database: An interactive web database of mutations, phenotypes, and structural analysis tools. Hum Mutat 26:192-198. doi: 10.1002/humu.20214
5. Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG (1995) Definition of the bleeding tendency in factor XI-deficient kindreds - a clinical and laboratory study. Thromb Haemost 73:194-202
6. Asakai R, Chung DW, Davie EW, Seligshon U (1991) Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med 325:153-158
7. Franchini M, Veneri D, Lippi G (2006) Inherited factor XI deficiency: A concise review. Hematology 11:307-309. doi: 10.1080/10245330600921964
8. Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Frederic B et al (2007) Characterization of seven novel mutations causing factor XI deficiency. Haematologica 92:1375-1380. doi: 10.3324/haematol.11526
9. Bolton-Maggs PHB, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L et al (2004) A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost 2:918-924. doi: 10.1111/j.1538-7836.2004.00723.x
10. Kato A, Asakai R, Davie EW, Aoki N (1989) Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet 52:77-78. doi: 10.1159/000132844
11. Colman RW, Rao AK, Rubin RN (1994) Factor XI deficiency and haemostasis. Am J Hematol 45:73-78. doi: 10.1002/ajh.2830450111
12. O'Connell NM (2004) Factor XI deficiency. Semin Hematol 41:76-81. doi: 10.1053/j.seminhematol.2003.11.015
13. Lawler P, White B, Pye S, Hermans C, Riddell A, Costello C et al (2002) Successful use of recombinant factor VIIa in a patient with inhibitor secondary to severe factor XI deficiency. Haemophilia 8:145-148. doi: 10.1046/j.1365-2516.2002.00590.x
14. O'Connell NM (2003) Factor XI deficiency - from molecular genetics to clinical management. Blood Coagul Fibrinolysis 14:S59-S64. doi: 10.1097/ 00001721-200306001-00014
15. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Selligsohn U, Pipe SW et al (2003) Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 34:220-225. doi: 10.1038/ng1153
16. Hill M, McLeod F, Franks H, Gordon B, Dolan G (2005) Genetic analysis in FXI deficiency: Six novel mutations and use of a polymerase chain reaction-based test to define a whole gene deletion. Br J Haematol 129:825-829. doi: 10.1111/j.1365-2141.2005.05536.x
17. Quelin F, Francois D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P (2005) Factor XI deficiency: Identification of six novel missense mutations. Haematologica 90:1149-1150