Could my six year old son have Thal Minor?

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Offline Andy Battaglia

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Re: Could my six year old son have Thal Minor?
« Reply #15 on: February 21, 2011, 10:18:53 PM »
That's good news Stacey. If we can be of further help let us know.
Andy

All we are saying is give thals a chance.

Re: Could my six year old son have Thal Minor?
« Reply #16 on: February 22, 2011, 03:46:16 AM »
I was able to get my hands on Hugh's hemoglobin elec test and thought I would share it:

HGB A1     96.6  (range: 94.3-98.5)

HGB A2     2.9    (1.5-3.7)  Note: carriers of a rare beta thalassemia variant may have normal HGB A2)

HGB F        .5      (.0-2.0)

His MCV was higher that day too, 82.9, and since he's not microcytic, I guess there's no reason to do any DNA tests. Oddly, though, this time he had high lymphocyte and monocyte results, and his WBC has been steadily dropping since October (8.8, 7.9, and now, 5.8). He also had a low ALT/SGPT (<20, range: 27-42).

Thanks again! Stacy

Re: Could my six year old son have Thal Minor?
« Reply #17 on: February 24, 2011, 07:12:47 AM »
I just wanted to weigh in and say that my Haem electrophoresis test also came back normal, because i have the beta-delta-gamma-elipson zero deletion trait.

My results were :
A2 - 3%
F - <1%
H - not detected
and the HPLC showed a normal Haem profile. -

After this was done they thought i had an alpha trait. and my Hb sits between 11.2 and 12.4 . my MCV and MCH and MCV are always out though.... but i guess i just wanted to say that having a normal electrophoresis test isnt always indicative. They took the blood test for the MPLA genetics test a good 6 months before they did the bone marrow biopsy and aspirate, porphyria, and other blood work tests - but it took forever to get results in cos it was originally to test for alpha but it turns out that i have a 1.21M bp deletion.

I guess what im trying to say is that the electrophoresis test doesnt always reflect the anaemia.

 

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