CDC Hemophilia Mutation Project (CHAMP & CHBMP)

CHAMP F8  Mutation List

The CHAMP 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 annually with newly published or submitted mutations and corrections.

• CHAMP Mutation List Database Excel file

CHAMP F8  Mutations in the United States

As part of the Hemophilia Inhibitor Research Study (HIRS), the Division of Blood Disorders at the Centers for Disease Control and Prevention (CDC) tested more than 1400 patients and identified over 250 unique mutations in the factor VIII gene, F8, to identify the mutation in the gene that caused their hemophilia A. This Excel database lists mutation results for patients tested as part of HIRS.

• CHAMP Mutations, United States Excel file

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 annually with newly published or submitted mutations and corrections.

• CHBMP Mutation List Database Excel file

CHBMP F9  Mutations in the United States

As part of the Hemophilia Inhibitor Research Study (HIRS), the Division of Blood Disorders at the Centers for Disease Control and Prevention (CDC) tested more than 220 patients and identified over 85 unique mutations in the factor IX gene, F9, to identify the mutation in the gene that caused their hemophilia B. This Excel database lists mutation results for patients tested as part of HIRS.

• CHBMP Mutations, United States Excel File

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.