The Fanconi Anemia Registry (FA Registry)

The Fanconi Anemia Registry (FA Registry) aims to gather information from, for, and about individuals with Fanconi anemia. We collect medical data from registered FA patients annually. Additionally, we offer diagnostic and counseling services, supported by referral fees, and collect blood, bone marrow, and tissue samples for FA research.

We would be delighted if you or your patients could support our FA Registry! Below are some quick links where you can find lots of useful information. If you have any questions, please don’t hesitate to contact us:

We would be thrilled if you or your patients could support our FA Registry! Below are some quick links where you can find lots of useful information. If you have any questions, please don’t hesitate to contact us:

The Fanconi Anemia Registry within the CPS Registry

The Fanconi Anaemia Registry was established in 2014. Working closely with “Deutsche Fanconi Anämie Hilfe“, it has collected medical data for FA research since its inception. Due to significant overlap with the later-established CPS Registry, the Fanconi Anemia Registry was merged into the CPS Registry in January 2020. The CPS Registry remains dedicated to cancer predisposition syndromes in general, while the FA Registry focuses exclusively on Fanconi anaemia research.

This merger not only makes scientific sense but also creates numerous synergies. For instance, it allows for shared biomaterial archiving capacity, data analysis programs, and personal patient support.

Registration Requirements

To register in the Fanconi Anemia Registry, a confirmed diagnosis of “Fanconi anemia” is required; suspicion alone is not sufficient. Dr. Reinhard Kalb’s laboratory at the Institute of Human Genetics in Würzburg offers definitive diagnosis services. Click the button below to visit the Institute’s website for relevant contact details.

Submitting biomaterial is necessary for diagnosis. You can also find all relevant information on the Institute’s website. Please be aware that, for legal reasons, the biomaterial must be accompanied by the completed form “Declaration of Consent and Order for Genetic Testing.” You can locate this form in our download area. Just click on “Information on Blood and Tissue Samples” under “What are you looking for?”

Advice for Patients and Their Treatment Teams

An important part of the work of the Fanconi Anemia Registry is the individual counseling of people with FA and their treatment teams. We offer our support to treating physicians, especially when cancer occurs in patients with Fanconi anemia. This is because standard treatment regimens are often too toxic for people with FA. Genetic characterization of the tumor may also be helpful.

For advice, official statements or treatment recommendations, please contact our registry director Prof. Dr. med. Christian Kratz directly. For a better assessment, it is helpful if you send us your doctor’s letter and radiological images of your patient.

Reference Diagnostics and Biomaterial

As part of the Fanconi anemia registry, we also collect biomaterial to advance research and gain new insights into Fanconi anemia. This can include blood, bone marrow, skin samples, tumor tissue and buccal swabs. There are different requirements and shipping addresses for the various samples used for reference diagnostics and research. You can find an overview of these at the top of the page under Quicklinks or in our Download Area.

Patient Registration in the Fanconi Anemia Registry

We are delighted when individuals living with Fanconi anemia choose to join our registry. There are two primary methods for registration, outlined in the following information boxes. Please be aware of the special features associated with registering in the FA registry.

As the attending physician, you register your patient with us in the FA registry.

As the attending physician, you register your patient with us in the FA registry.

Typically, the attending physician is responsible for registering FA patients. We provide detailed instructions on the registration process on the “Patient Registration” page. Clicking on this info box will take you directly to that page.

As a patient, you register yourself with us in the FA registry.

As a patient, you register yourself with us in the FA registry.

If the attending physician is unable to register for the registry, we also offer CPS patients the option of self-registration. Further information on this can be found on the “CPS Research – Get Involved!” page. Clicking on this info box will take you directly there.

Special Features of Registration in the Fanconi Anemia Registry

There are different requirements and shipping addresses for the biomaterials collected as part of the registry work. To facilitate navigation, we’ve created a comprehensive overview containing all required biomaterials along with their corresponding shipping addresses. The following link will directly lead you to this overview, which is also available in our download area. Additionally, you’ll find all the corresponding submission forms in the download section.

The Fanconi Anemia Registry Team

  • Christina Dutzmann
    Christina Dutzmann
    Ärztin in der KPS-Ambulanz und im KPS-Register
    Ärztin in der KPS-Ambulanz und im KPS-Register
  • Beatrice Hoffmann
    Beatrice Hoffmann
    Studienassistenz, Patientensupport
    Studienassistenz, Patientensupport
  • Birte Sänger
    Birte Sänger
    Studienassistenz, Patientensupport
    Studienassistenz, Patientensupport
  • Dr. med. Marena Niewisch
    Dr. med. Marena Niewisch
    Stellvertretende Registerleitung Fanconi Anämie-Register
    Stellvertretende Registerleitung Fanconi Anämie-Register
  • Prof. Dr. med. Christian Kratz
    Prof. Dr. med. Christian Kratz
    Head of the CPS outpatient department and the CPS Registry
    Head of the CPS outpatient department and the CPS Registry
  • Christina Dutzmann
    Christina Dutzmann
    Ärztin in der KPS-Ambulanz und im KPS-Register
    Ärztin in der KPS-Ambulanz und im KPS-Register
  • Beatrice Hoffmann
    Beatrice Hoffmann
    Studienassistenz, Patientensupport
    Studienassistenz, Patientensupport
  • Birte Sänger
    Birte Sänger
    Studienassistenz, Patientensupport
    Studienassistenz, Patientensupport
  • Dr. med. Marena Niewisch
    Dr. med. Marena Niewisch
    Stellvertretende Registerleitung Fanconi Anämie-Register
    Stellvertretende Registerleitung Fanconi Anämie-Register
  • Prof. Dr. med. Christian Kratz
    Prof. Dr. med. Christian Kratz
    Head of the CPS outpatient department and the CPS Registry
    Head of the CPS outpatient department and the CPS Registry