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  • The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.

The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.

American journal of hematology (2013-08-06)
Natalia Rydz, Rydz Natalia, Jayne Leggo, Leggo Jayne, Shawn Tinlin, Tinlin Shawn, Paula James, James Paula, David Lillicrap, Lillicrap David
ABSTRACT

A reference genotyping laboratory was established in 2000 at Queen's University, Kingston, to provide genetic testing for Hemophilia A (HA) and B (HB) and create a Canadian mutation database. Canadian hemophilia treatment centers and genetics clinics provided DNA and clinical information from November 2000 to March 2011. The factor VIII (F8) gene was analyzed in 1,177 patients (47% of HA population) and 787 female family members and the factor IX (F9) gene in 267 patients (47% of HB population) and 123 female family members, using Southern Blot, PCR, conformation sensitive gel electrophoresis, and/or direct sequencing. The mutation detection rates for HA and HB were 91% and 94%, respectively. 380 different F8 mutations were identified: inversions of intron 22 and intron 1, 229 missense, 45 nonsense, eight deletions, 70 frameshifts, 25 splice site, and one compound mutation with a splice site and intron 1 inversion. Of these mutations, 228 were novel to the Hemophilia A Database (HADB, http://hadb.org.uk/). A total 125 different F9 mutations were identified: 80 missense, 12 frameshift, 12 splice site, nine nonsense and seven promoter mutations, three large deletions, and two compound mutations with both missense and nonsense changes. Of these mutations, 36 were novel to the International Haemophilia B Mutation database (http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html). The Canadian F8 and F9 mutation database reflects the allelic heterogeneity of HA and HB, and is similar to previously described populations. This report represents the largest and longest duration experience of a national hemophilia genotyping program documented, to date.

MATERIALS
Product Number
Brand
Product Description

Human coagulation factor VIII concentrate, European Pharmacopoeia (EP) Reference Standard
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1 g
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$53.20
5 g
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10 g
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Sigma-Aldrich
Factor IX human, aqueous glycerol solution, ≥145 units/mg protein
Sign Into View Organizational & Contract Pricing
SKUPack SizeAvailabilityPriceQuantity
1 g
Estimated to ship on March 24, 2025
$53.20
5 g
Estimated to ship on March 24, 2025
$208.00
10 g
Estimated to ship on March 24, 2025
$431.00