Skip to content
    Font Size
    A
    A
    A

    Atransferrinemia

    Important
    It is possible that the main title of the report Atransferrinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • congenital atransferrinemia
    • hereditary atransferrinemia
    • hypotransferrinemia

    Disorder Subdivisions

    • None

    General Discussion

    Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess iron in the body (hemosiderosis). Symptoms may vary based upon the severity of anemia and upon the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth delays. Atransferrinemia is principally caused by mutations of the transferrin (TF) gene and is inherited as an autosomal recessive trait. Atransferrinemia is classified as an iron overload disorder. A milder form of atransferrinemia, known as hypotransferrinemia, is caused by mutations in the same gene.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    Iron Overload Diseases Association, Inc.
    525 Mayflower Road
    West Palm Beach, Fl 33405
    Tel: (561)586-8246
    Fax: (561)842-9881
    Tel: (866)768-8629
    Email: iod@ironoverload.org
    Internet: http://ironoverload.org

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    Iron Disorders Institute
    PO Box 675
    Taylors, SC 29687
    USA
    Tel: (864)292-1175
    Fax: (864)292-1878
    Tel: (888)565-4766
    Email: info@irondisorders.org
    Internet: http://www.irondisorders.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 5/28/2010
    Copyright 2010 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Hot Topics

    WebMD Video: Now Playing

    Click here to wach video: Dirty Truth About Hand Washing

    Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

    Click here to watch video: Dirty Truth About Hand Washing

    Popular Slideshows & Tools on WebMD

    disciplining a boy
    Types, symptoms, causes.
    fruit drinks
    Eat these to think better.
    embarrassed woman
    Do you feel guilty after eating?
    diabetes supply kit
    Pack and prepare.
    handful of vegetables and vitamins
    Diet tips and mistakes.
    birth control pills
    Which kind is right for you?
    Remember your finger
    Are you getting more forgetful?
    sticky notes on face
    10 tips to clear your brain fog.
    Close up of eye
    12 reasons you're distracted.
    Trainer demonstrating exercise for RA
    Exercises for your joints.
    apple slices with peanut butter
    What goes best with workouts?
    woman having a good day
    Revitalize your life.

    Pollen counts, treatment tips, and more.

    It's nothing to sneeze at.

    Loading ...

    Sending your email...

    This feature is temporarily unavailable. Please try again later.

    Thanks!

    Now check your email account on your mobile phone to download your new app.

    Women's Health Newsletter

    Find out what women really need.