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Mutations Causing Rare Bleeding Disorders
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Supplement to Chapter 125 of Williams Hematology 8thEdition, 2010

Ariella Zivelin and Uri Seligsohn

The following Tables contain information on the mutations that cause coagulation factor defects associated with a bleeding tendency.Table 1 displays the total number and types of mutations as of January 1, 2011.For each factor deficiency there are two types of Tables:

1.Tables in which the mutations are organized 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 repeatedly in the same population, only their references are given.The Tables also present data (where available) on level of activity and antigenicity of the respetive coagulation factors, origin of the patients, occurrence in populations and indicate whether the mutations were further characterized.

Symbols and abbreviations:Unrelated patients carrying the same mutation are highlighted by an asterisk

Hom, homozygote; Het, heterzygote; Comp het, compound heterozygote; Del, deletion; Ins, insertion

2.Tables that summarize the individual mutations according to their type and location from 5' to 3'.


Summary of mutations causing rare bleeding disorders

ProthrombinFactor XI
Factor VFactor XIII
Factor VIICombined Factor V and Factor VIII
Factor XVitamin K-dependent factors deficiency
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