CDC Hemophilia A Mutation Project (CHAMP)

CHAMP F8 Mutation List

The CHAMP F8 Mutation List is an Excel database containing more than 2,000 F8 mutations that have been reported worldwide. It was compiled from mutations listed originally in the Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS), as well as those from more than 40 additional publications. Each mutation has been reviewed and uniquely identified using the Human Genome Variation Society (HGVS) nomenclature for DNA and predicted protein changes, as well as traditional nomenclature based on the mature processed protein. A single listing for each mutation includes: severity classified by criteria from the International Society on Thrombosis and Haemostasis (ISTH) based on factor levels provided, inhibitor history, and references to first reports. The Excel database, which can be downloaded and searched, includes field definitions, summary tables, figures, references, and instructions for use. It will be updated quarterly with newly published or submitted mutations and corrections.

• CHAMP Mutation List Database Excel file

 

CHAMP F8 Mutations in the United States

The Centers for Disease Control and Prevention (CDC) is conducting the largest survey to date of patients with hemophilia residing in the United States to identify the mutation in the gene that causes their hemophilia. The Division of Blood Disorders at CDC has tested more than 800 patients and identified 248 unique mutations in the factor VIII gene, F8, which cause hemophilia A. This database lists mutation results for patients tested as part of the CDC Inhibitor Study in an Excel format.

• CHAMP Mutations, United States Excel file

 

CHAMP F8 Mutations Worldwide

This database will be a compilation of individual patient mutations and resulting clinical characteristics, from a large, unselected series of patients tested in different countries. This database will allow for the assessment of the frequencies and characteristics of specific mutations worldwide. This database currently is under construction.

 

Public Use Data and Resources

The CHAMP dataset is available for download as a public use dataset in Microsoft Excel format. Please read the Data Use Restrictions Policy located on this webpage for important information about the conditions for use of these data files. Important information is contained in these files about how to use and properly interpret the data contained in the dataset.