Mild bleeding diathesis in a boy with combined severe haemophilia B (C10400→T) and heterozygous factor V Leiden

Haemophilia

Volumn 7, Issue 5, 2001, Pages 511-514

  Vianello, F ^a,b,c   Belvini, D ^a,b   Dal Bello, F ^a,b   Tagariello, G ^a,b   Zanon, E ^a,b   Lombardi, A M ^a,b   Zerbinati, P ^a,b   Girolami, A ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b Castelfranco Veneto Hospital   (Italy)

^c UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Factor V Leiden; Haemophilia B; Hypercoagulable states

Indexed keywords

ACTIVATED PROTEIN C; ANTIGEN; BLOOD CLOTTING FACTOR 5 LEIDEN; CYTOSINE; DNA; EPIDERMAL GROWTH FACTOR; THYMINE;

ANAMNESIS; ARTICLE; BLEEDING TENDENCY; CASE REPORT; DISEASE SEVERITY; DNA FLANKING REGION; EXON; GEL ELECTROPHORESIS; GENE ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HEMATOMA; HEMOPHILIA B; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MOTHER; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; THROMBOPHLEBITIS;

ACTIVATED PROTEIN C RESISTANCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR V; FAMILY HEALTH; HEMOPHILIA B; HEMORRHAGE; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION; THROMBOPHILIA;

EID: 0034809358     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2001.00551.x     Document Type: Article

References (17)

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7. A 'new' congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): Study of a large kindred
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13. An immunological investigation of haemophilia B with a tentative classification of the disease into five variants
14. Venous thromboembolism after hip fracture surgery in a patient with haemophilia B and factor V Arg506Gln (factor V Leiden)
15. Low prevalence of the factor V Leiden mutation among 'severe' haemophiliacs with a 'milder' bleeding diathesis
16. Association of severe haemophilia A and factor V Leiden: Report of three cases