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This is Thalassemia Patients and Friends,
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Lisa Cammilleri.
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Author Topic: advice for initial hematologist visit?  (Read 4398 times)
vertigo
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« on: March 14, 2007, 03:10:02 AM »

My dtr (age 2) will be seeing a pedi. hematologist next week.  She received a diagnosis of thal minor or thal trail??? from her pediatrician.  He placed her on iron because she also was diagnosed with iron def. anemia.  I got copies of all of her blood work and faxed it for review to a blood disorders clinic.  I was told that the doctors would decide whether or not to evaluate my dtr based on the lab results.  After reviewing the labs the doctors decided that they wanted to evaluate her.  I have plenty of questions to ask the hematologist, but I would also like input from anyone regarding specific tests to request.  The only blood labs my dtr has had are a CBC and blood chemistry.  She does have a history of numerous viruses and infections with very slow healing.  Any advice?
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marientina
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« Reply #1 on: March 14, 2007, 08:12:55 AM »

You should ask for a full iron panel and a hemoglobin electrophoresis. Severe iron deficiency will throw off the electrophoresis test. Iron deficiency and thal trait can coexist. There is confusion between genetic inheritance and clinical symptoms in the community. Thal trait means your child has only one copy of the thalassemia trait. Thal minor means she is presenting some clinical symptoms of mild to moderate anemia. Most online literature is confusing. Some literature splits the trait into thal minima (no symptoms) and thal minor (some symptoms). Either you or the father carry thalassemia and if you both do, you risk having a child that inherites a copy from each parent and will have moderate to severe thalassemia (intermedia or major) which is a high-maintenance condition.

A CBC and chemistries reveal anemia and possible type. A full iron panel quantifies or reveals iron deficiency. Your child should NOT be given iron unless she is iron deficient. If your doctor didn't do any iron studies, taking iron is not recommended and in fact dangerous.

Hemoglobin electrophoresis is used to type a hemoglobin disorder like thalassemia or sickle cell. Some people can be silent carriers and not show anything here which really sucks from a viewpoint of family planning and preparation.

The best way to diagnose thalassemia is through a DNA test, but because it costs more and isn't always necessary, especially if known thalassemias run in families, doctors tend to not do them and work bottom up.

Good luck. I have been sickly since birth and have thal minor and iron deficiency. It can be controlled with diet and supplements and the earlier your know, the better.
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