Thal Minor or Itermedia?

Hi all,

I would really appreciate if you could help me with interpretation of my son's test results.

He was initially diagnosed as beta-thal minor at 12 months following hemoglobin electrophoresis results:
A - 87.5%
A2-3.9%
F - 8.6%.

We repeated the tests when he was 16 months old with same diagnostic, slightly different values:
A - 89.7%
A2 - 4.3%
F - 6%

Now, when he is almost 36 months, we went to a highly regarded hematologist in London specialized in beta thallasemia, who mentioned he might be beta thal intermedia, due to a higher F hemoglobin than normally seen in minor patients! We did genetic testing, but have to wait over a month for the results. Is it possible he is a very mild form of intermedia???

Forgot to mention: his Hg has always been around 11, sometimes even 13, lately dropping to 10.7 (lowest recorded value for him) after a very nasty virus.

Just the Hb or Hb A, A2 and Hb F may not be enough to decide whether its a minor or intermedia.
A better and larger view of the CBC along with other parameters like Liver (Bilirubin, SGOT, SGPT) etc may help determine. Sometimes, a patient on paper may remain a thal minor but body symptoms may show like intermedia.

Hello jsbhavsar,

Thank you so much for your input. SGOT and SGPT have been checked - all normal. Bilirubin hasn't been checked though.

CBC:
RBC - 5.07 slightly high (limit is 4.9)
HGB - 10.7 slightly low (limit is 11)
MCV - 66.7 low (limit is 73)
MCH - 21.1 low (limit is 25)
MCHC - 31.7 slightly low (limit is 32)
RDW - 17 high (limit is 14.8)

Any thoughts?

Thank you!

MCV, RBC count, Hb could help crudely decide the label. In this case, it looks it is a thalassemia minor case given that Hb is 10.7 and MCV is coming to 66.7. RBC count is also good. Unless other symptoms or complications add to, he should be considered beta thal minor.

LucyL,

All of the levels say the child is minor. The high RBC and RDW below 18 both indicate thal minor and not iron deficiency. Intermedia would not have such a high HbA. It is possible that the child also carries hereditary persistence of fetal hemoglobin, HPFH which would explain the higher HbF, or it could be related to the specific type of beta mutation present. The mutation will be revealed by the DNA test. HPFH is not a problem and the added HbF is part of the total hemoglobin level. This also means that the child's Hb is more likely to respond to wheatgrass.

Hi Andy,

Your response is much appreciated! Thank you! I spoke to Dr. again and yes, he mentioned he is suspecting triplicated alpha or HPFH in addition to beta thal minor. In triplicated alpha is discovered, I guess that would classify it technically beta thal minor, but symptoms wise it would be beta thal intermedia...? I reckon HPHF would be the better outcome between the two...?

Another 2 nerve wrecking weeks until the DNA test results. 

Thank you!

HPFH would be no problem. A triplicated alpha gene combined with beta minor can cause unstable hemoglobin to be produced, usually resulting in an Hb lower than typically seen with thal minor. Hope for the HPFH.

We got the genetic test results. It's Minor! No HPFH, no triplicated alpha. We are overjoyed and soooo relieved! Mutation detected Codon 29. The interesting bit is that his HbF dropped to 2.4 from 6. My son is now 3 and last hemoglobin electrophoresis was done when he was 16 months. This is to prove that in some children HbF continues to drop even after the 6 months mark. Hope our case and my post may help a parent feel less worried.

Andy, the DR recommended no supplements whatsoever, no folic acid, nothing. What would you recommend?

My recommendations for nutrition can be seen at http://www.thalassemiapatientsandfriends.com/index.php/topic,4890.0.html
For children, use 1/4 to 1/2 dose depending on the weight of the child.