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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 using 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 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 over 250 unique mutations in the factor VIII gene, F8, which causes hemophilia A. This Excel database lists mutation results for patients tested as part of the CDC Inhibitor Study.

 

CHBMP F9 Mutation List

The CHBMP F9 Mutation List is an Excel database containing more than 1,000 F9 mutations that have been reported worldwide. It was compiled from mutations listed originally in other publicly available databases, as well as those from recent 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 using 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.

 

CHBMP F9 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 220 patients and identified over 85 unique mutations in the factor IX gene, F9, which causes hemophilia B. This database lists mutation results for patients tested as part of the CDC Inhibitor Study in an Excel format.

 

Public Use Data and Resources

The CHAMP and CHBMP datasets are available for download as public use datasets 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.

 

Warning! Data Use Restrictions Read Carefully Before Using

The Public Health Service Act (Section 308 (d)) provides that the data collected by the Centers for Disease Control and Prevention (CDC) may be used only for the purpose of health statistical reporting and analysis.

Any effort to determine the identity of any reported case is prohibited by this law.
CDC does all it can to assure that the identity of data subjects cannot be disclosed. All direct identifiers, as well as any characteristics that might lead to identification, are omitted from the dataset. Any intentional identification or disclosure of a person or establishment violates the assurances of confidentiality given to the providers of the information. Therefore, users will:

  1. Use the data in this dataset for statistical reporting and analysis only.
  2. Make no use of the identity of any person or establishment discovered inadvertently.
  3. Not link this dataset with individually identifiable data from other CDC or non-CDC datasets.

By using these data you signify your agreement to comply with the above-stated statutorily based requirements.

 

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