Discussions By Condition: I cannot get a diagnosis.

Help for a baby with congenital hemoytic anemia

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: Stephanie`s mother
  • March 28, 2008
  • 11:04 AM

Hello,
My 11 months old baby girl was born with congenital hemolytic anemia. I live in Romania and the doctors can`t find a diagnosis. All blood test are normal but the baby needs blood transfusions every two month. They said it may be Congenital Diserythropoietic Anemia type II, but the Ham test is negative.
We are going crazy because they don`t seem to do anything and the things become complicated. We are dealing now with iron overload and she already start to get Desferal (Desferoxamina), and the liver and the spleen are becoming larger.
If have any idea about where in this world we can go search for a certain diagnosis, please let me know.
Thank you.

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1 Replies:

  • The place to go for rare genetic problems is here, but I must warn you that the information you'll find is very technical and hard to understand: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim Use the "search OMIM" link.
    aquila 1263 Replies Flag this Response
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