Supplement to Chapter 116 of Williams Hematology 7 th Edition 2006
Ariella Zivelin and Uri Seligsohn
Updated February 15, 2007
The following Tables contain information on the mutations that cause coagulation factor defects associated with a bleeding tendency. The mutations are organized in the Tables according to patients’ genotypes described in full publications, not as meeting abstracts. The patients harboring the mutations are presented according to the location of the gene alteration from 5’ to 3’. In compound heterozygotes, the location is displayed by the more 5’ mutation. When the same genotypes were reported again, only their references are given. The Tables also present data on levels of activity and antigenicity of the respective coagulation factors, origin of the patients, presentation in unrelated patients, prevalence in populations, and indicate whether the mutations were further characterized.
A numerical summary of all mutations is presented at the beginning. Since the 2006 update, the numbers of added new mutations were: Prothrombin - 1, factor V – 7, factor VII – 1, factor X – 16, factor XI – 40, factor XIIIA – 13, and combined factors V and VIII (LMAN1) – 2.
Symbols and abbreviations: Unrelated patients from the same ethnic group carrying the same mutation are highlighted by an asterisk.
Hom, homozygote; Het, heterozygote; Comp het, compound heterozygote; Del, deletion; Ins, insertion
DATABASES