Discussions By Condition: I cannot get a diagnosis.

Red blood cell disorder

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: Anonymous
  • January 9, 2010
  • 02:20 AM

My 15 year old daughter has hemolytic anemia (yet hemoglobin is 12.4), hemolysis, jaundice, total billirubin of 2.7 mostly indirect, high retic count (7.3%), elevated iron levels, and gall stones. Liver function tests are normal. MCV and MCH are slightly elevated, MCHV is normal. Spleen and liver are normal in size and her gall bladder was removed over Christmas. The anemia is not autoimmune as the direct Coombs test was negative. Blood smear shows normal shaped cells and Wilson's disease has been ruled out. The doctors are thinking this may be a rare, even undiscovered, hereditary blood disorder. Blood cancers have been ruled out. Can anyone help? We have NO diagnosis. We are going to Duke Medical Center in a few weeks.

She is a conditioned cross country athlete weighing 94 lbs. and she is 5' tall.

Reply Flag this Discussion

1 Replies:

  • My 15 year old daughter has hemolytic anemia (yet hemoglobin is 12.4), hemolysis, jaundice, total billirubin of 2.7 mostly indirect, high retic count (7.3%), elevated iron levels, and gall stones. Liver function tests are normal. MCV and MCH are slightly elevated, MCHV is normal. Spleen and liver are normal in size and her gall bladder was removed over Christmas. The anemia is not autoimmune as the direct Coombs test was negative. Blood smear shows normal shaped cells and Wilson's disease has been ruled out. The doctors are thinking this may be a rare, even undiscovered, hereditary blood disorder. Blood cancers have been ruled out. Can anyone help? We have NO diagnosis. We are going to Duke Medical Center in a few weeks.She is a conditioned cross country athlete weighing 94 lbs. and she is 5' tall.Sounds exactly like paroxysmal nocturnal hemoglobinuria - Duke has PNH specialist there. Have they checked her LDH level and is her urine ever dark or red? (many patients don't have dark/red urine).
    Anonymous 42789 Replies
    • January 30, 2010
    • 01:22 PM
    • 0
    Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.