L'anémie de  


maladie génétique rare

Rare genetic disease : Diamond and Blackfan Anémia








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This is a personal page that engages only his webmaster. The author advises that documents from the French association against the Diamond-Blackfan Disease have been used in the preparation of this site…


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last update it 2006-02-02 11:48:29

What is the diamond-blackfan disease

The Diamon-Blackfan Anaemia syndrome is a rare disease manifesting itself as an acute anaemia; it is,in most cases,diagnosed in early childhood .This anaemia is the direct consequence of the inability of the bone marrow to produce blood red cells.


The first two cases were described in 1936 by MR. Joseph, followed, in 1938,by a more detailed report on four cases by the doctors Diamond and Blackfan.

Both sexes are equally affected. A recent statistic counted approximately 150 cases in France and some sources consider that there are 2 to 7 cases per 1 000 000 births.

You are concerned by the disease?

The following is for your personal benefit..

You have just been told that your child is suffering from the Blackfan-Diamond disease; To our despair, we experienced sometime ago the same anguish as yours, so an awful uncertainty surrounded us and the same questions arose at once..

Before getting any further, please bear in mind that, despite the disease, most children will enjoy a normal life; you will then partake with them intense and exceptional moments of joy and happiness seldom experienced otherwise.

This does not preclude many obstacles and difficulties still to come. The French association against the Blackfan and Diamond Disease (AFMBD) was created to see you through those trying times ahead and to bring families into personal experience sharing. The main objective of these few lines is to bring about some answers to your immediate questions.

Please note that this page, to all intents and purposes, is no substitute to the medical corps.

We are, in France, fortunate enough to have doctors with specialized knowledge and competence into the disease. They keep abreast with the latest innovations in the fields of therapeutic progresses as well as fundamental research. It is however essential to keep in mind that every case (or patient) has a related history and peculiarities that treating doctors will take into consideration before posing a diagnosis and prescribing a specified treatment adapted to each patient.

An association called A.F.MB.D. has vocation to provide all the support needed by the family members faced with such predicament. Please do not hesitate to seek assistance with its president at to the following address:

French association against the Disease of the blackfan-diamond Disease. 8, street Jéhan Fouquet 37000 Tours / France

This page has been produced thanks to the Guide to the families and to the patients edited by the association A.F.M.B.D.



For further enquiries please contact Yannick using the acronym @


  Un Grand merci à Monsieur Bernard Le ROY Pour la traduction de cette page qui prouve que l'entraide existe encore. Je citerai Gérard de Nerval : La connaissance de chacun est le trésor de tous.