A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

American Journal of Hematology

Volumn 77, Issue 1, 2004, Pages 90-91

  Menegatti, Marzia ^a   Karimi, Mehran ^b   Garagiola, Isabella ^a   Mannucci, PierMannuccio ^a   Peyvandi, Flora ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Factor VII deficiency; Factor X deficiency; Mutational analysis; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; CYSTEINE; SERINE;

ARTICLE; BLEEDING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CONSANGUINEOUS MARRIAGE; FEMALE; GENOTYPE; HOMOZYGOSITY; HUMAN; IRAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ADULT; BLOOD COAGULATION DISORDERS; FACTOR VII DEFICIENCY; FACTOR X DEFICIENCY; FAMILY HEALTH; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; IRAN; MALE; MUTATION, MISSENSE;

EID: 4243150705     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20132     Document Type: Article

References (8)

1. Tuddenham EGD, Cooper DN. The molecular genetics of hemostasis and its inherited disorders. Oxford: Oxford University Press; 1994.
2. Peyvandi F, Mannucci PM, Lak M, et al. Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. Br J Hematol 1998;102:626-628.
3. Pfeiffer RA, Ott R, Gilgenkrantz S, Alexandre P. Deficiency of coagulation factors VII and X with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet 1982;62:358-360.
4. Scambler PJ, Williamson R. The structural gene for human coagulation factor X is located on chromosome 13q34. Cytogenet Cell Genet 1985;39:231-233.
5. Gilgenkrantz S, Briquel M-E, Andre E, et al. Structural genes of coagulation factors VII and X located on 13q34. Ann Genet 1986;29:32-35.
6. Marchetti G, Patracchini P, Gemmati D, et al. Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). Hum Genet 1992;89:497-502.
7. + factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII. Br J Haematol 1994;86:610-618.
8. Tagliabue L, Duca F, Peyvandi F. Apparently dominant transmission of a recessive disease: deficiency of factor VII in Iranian Jews. Ann Ital Med Int 2000;15:263-266.