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#1 23-12-2006 12:43:08

destivic
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Lieu: Nantes
Date d'inscription: 30-11-2006
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Elliptocytose héréditaire

L'elliptocytose est une affection hématologique rare caractérisée par des anomalies du cytosquelette des hématies qui prennent une forme d'ellipse.

Il s'agit d'une maladie génétique qui se transmet sur le mode autosomique dominant et résulte d'une mutation des gènes de protéines constituant le cytosquelette des hématies : alpha- ou béta-spectrines par exemple.

Les manifestations sont très disparates juqu'à l'anémie hémolytique.

Le diagnostic repose sur l'examen du frottis sanguin qui contient plus de 15 % d'elliptocytes (hématies en ellipse).

Une splénectomie est nécessaire dans les formes graves.




Source : encyclopédie wikipedia


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#2 07-04-2008 13:27:19

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Je désire poser une question : est ce que dans cette maladie les douleurs thoraciques sont décrites et sont elles quasi constantes? J'ai ma fille 30 ans qui souffre de cette maladie depuis son enfance; elle a de plus en plus de douleurs qui sont invalidentes et qu'elle n'arrive pas à soulager; sa formule est normale, son hemoglobine à 12 et l'haptoglobine est effondrée. Je désire etre aidée .Merci.

 

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