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Original site: www.cdc.gov/hemophilia/mutation-project/index.html | RestoredCDC.org is an independent project, not affiliated with CDC or any federal entity. Visit CDC.gov for free official information. Due to archival on January 6, 2025, recent outbreak data is unavailable. Videos are not restored. Access data.restoredcdc.org for restored data. Use of this site implies acceptance of this disclaimer.
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Hemophilia
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About Diagnosis Treatment Living with Hemophilia Data and Statistics on Hemophilia Hemophilia Resources Travel Safe with a Bleeding Disorder Hemophilia Mutation Project View All
November 7, 2024
CDC Hemophilia Mutation Projects (CHAMP and CHBMP)
At a glance
Data from the CDC Hemophilia A and B Mutation Projects are available for public use and download.
CDC Hemophilia A and B Mutation Projects (CHAMP and CHBMP)
CHAMP and CHBMP data
The Centers for Disease Control and Prevention (CDC) Hemophilia A Mutation Project (CHAMP) and CDC Hemophilia B Mutation Project (CHBMP) datasets are available for download as public use datasets in Microsoft Excel format. Please read the Data Use Restrictions Policy below 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.
Data use restrictions: Read carefully before using
The Public Health Service Act (Section 308 [d]) provides that the data collected by the 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 strives 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, and
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 statutorily based requirements.
CHAMP F8 mutation list
The CHAMP F8 (factor VIII [8]) mutation list is an Excel database containing more than 4,000 changes in the F8 gene that have been reported to cause hemophilia A. 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 350 additional publications. Each mutation has been reviewed and uniquely identified using the Human Genome Variation Society 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 the first report of each mutation. The Excel database, which can be downloaded and searched, includes field definitions, summary tables, figures, references, and instructions for use. It will be updated annually with newly published or submitted mutations and corrections.
* CHAMP 2022
CHBMP F9 mutation list
The CHBMP F9 (factor IX [9]) Mutation List is an Excel database containing more than 1,400 changes in the F9 gene that have been reported to cause hemophilia B. 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 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 ISTH based on factor levels provided, inhibitor history, and references to the first report of each mutation. The Excel database, which can be downloaded and searched, includes field definitions, summary tables, figures, references, and instructions for use. It will be updated annually with newly published or submitted mutations and corrections.
* CHBMP 2022
To submit a variant for inclusion in the CHAMP or CHBMP Variant Lists, or to make a correction to a listed variant, please use the submission form which can be found on the last tab of the Excel files.
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Real Stories from People Living with Hemophilia
November 7, 2024
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Hemophilia
Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. People with hemophilia can live full lives and enjoy most of the activities that other people do.
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