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Thalassemia Patients and Friends and thalpal Ā© A. Battaglia 2018





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Author Topic: Who received a bone marrow biopsy for thal diagnosis?  (Read 2020 times)
ammd4583
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« on: May 15, 2016, 01:17:36 PM »

Just wondering who received a bone marrow biopsy? We did initially in which we got a different diagnosis before genetic testing revealed that it was in fact beta thal. I'm curious if anyone is familiar with ringed sideroblasts? Are those common in a person with betathal?
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Andy
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« Reply #1 on: May 18, 2016, 11:10:48 PM »

It's not common but also not unheard of. It has been observed that ringed sideroblasts have been found in the presence of the initiation codon (ATG-->AGG) mutation of the beta-globin gene, which is relatively rare, but has previously been found in Chinese and Korean families. I don't know if it's been observed with other mutations.
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Andy

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ammd4583
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« Reply #2 on: April 20, 2017, 07:57:58 PM »

Hi Andy,

I am just seeing your response (almost a year later) My daughter had a bone marrow biopsy initially when they were trying to diagnose her. She was initially disgnosed with sideroblastic anemia but later genetic testing showed beta thal major. Her newborn screening which most people seem to be diagnosed from did not indicate any blood issues. She presented with symptoms at 6 weeks of age which her hematologist here said was pretty early.  I don't know what I'm really looking for. I guess I'm still trying to piece together why she seemed to present so differently.
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Andy
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« Reply #3 on: April 25, 2017, 07:07:22 PM »

Was DNA analysis done?
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Andy

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