Mother with child with possible thal minor

New member and very happy I found this board! Short summary is I will be taking my daughter to the doctor next week and want to make sure I understand everything and know what genetic testing to ask for when we're there. Our background is below.

My husband found out he has beta thalassemia last year. I am not sure if he had genetic testing for it, but an internal medicine doctor said he suspected he had it and my husband went through a dietary fast (no red meats) with a iron test after to determine if his iron levels were sufficient. My husband forgot to tell me about this until recently and well after I dealt with iron issues with our oldest.

Our oldest, who is 3 years old, went into the doctor for an ear infection and cold in Feb. While there the doctor noticed she looked slightly jaundiced and ordered a blood test and it came back with her slightly anemic (nurse would not give me numbers, just kept repeating "just slightly"...I plan to go to the records office tomorrow to get detailed info). My daughter was given iron supplements and I was told to put her on 10mls 2x per day and then to have her blood drawn again but I did not give them to her at that time. We had just corrected chronic constipation since she was a baby and I was not about to put her on high levels of iron and ruin it.

At her 3 year appointment in August the doctor noticed I never picked up the prescription and stressed that it was important that we do this. She said that some children have slightly low iron and it just takes a short period to boost her hemoglobin back to normal levels. That the iron would give her strange stools but that's it. So I picked up the prescription and started her on it.

It was a mess. I have no idea if this is normal with giving iron supplements to children but she had stomach pains, threw up, and I backed off of the dosage and had to slowly work her up to the full dose over 3 weeks (then do the 2 weeks at prescribed duration). She had dry diarrhea throughout this time. I won't go into detail but it was very difficult to deal with and sure didn't make her feel good. During this time I shared my frustrations with my husband who mentioned that he had beta thalassemia. I called the doctor to tell her this info and I was told to finish the iron supplement and no comment about her father's diagnosis. I had her blood drawn as soon as the 2 weeks were up and took her off the iron supplement.

I was called back recently by a nurse at the doctor's office who said the doctor got her blood draw results and she said that her hb was still low and the doctor wanted to put her on the same dosage for FOUR weeks now instead of two and redo the blood draw. I asked why four weeks would make any difference when the two didn't make a difference and the nurse said that her hb levels raised very slightly so it did something, but it was still not at normal levels. To come in and get more iron supplement.

I recently read a bit more about thalassemia and discovered the dangers of iron supplements if you have this condition. I refuse to give her more of this until they test her for thalassemia and ensure that she does not have that before giving her ANY supplement.

My question is: what specific blood test / genetic testing do I need her to undergo to be diagnosed or rule out thalassemia? What are they looking for in these tests? I am expecting the doctor to resist this testing so I want to make sure I am well informed before entering this office.

Also, anything as a mother should I look out for? My husband was told he wouldn't have any symptoms but recently began taking folic acid with B12 and felt immediate results. He has dealt with low energy, especially in the afternoon, and thought it was due to his high physical demand at this job (Army) and was dealing with it by eating small meals throughout the day, yet was always tired and kept feeling hungry. This little supplement has made his life so much easier!!! No symptoms for beta thalassemia minor my foot!!!!

Thank you for your help! Tomorrow I will hopefully get the numbers from both of the blood tests in Feb and Aug to compare the two and see how big of a "difference" this was (or if any?).

Hi MsMoose,

A doctor familiar with thalassemia would have been tipped off by the jaundice. Jaundice is not a sign of iron deficiency, but is quite commonly found in all types of thalassemia, including minor. Using hemoglobin level or hematocrit only cannot  diagnose iron deficiency if thal minor is also present. Only by running a series of tests called an iron panel, can iron deficiency be properly diagnosed. Jaundice is a feature of thal because the small defective red blood cells that are noted in blood tests, break down more quickly than the normal RBCs. This can cause enlargement of the spleen and an increase in bilirubin production, which in turn causes the yellow jaundiced look. I would suggest refusing anymore iron supplements until you have a clear diagnosis that tells you if she is or isn't a thal minor, and an iron panel has been performed, so her true iron levels can be measured. Iron supplements can be quite harmful when taken over extended periods and not needed. They should never be taken unless an iron panel has been run.

In addition to the CBC, a hemoglobin electrophoresis test can detect beta thal minor in most carriers. Folic acid and B vitamins are among the supplements recommended here for thal minor, as these nutrients are essential for producing RBCs and thal minors have a higher than normal turnover of RBCs, which depletes these important nutrients.

I would like to see the relevant reports from her blood tests. This would include Hb or hematocrit, MCV, MCH, RBC and RDW. Any comments about the size shape  and color of the RBCs is also helpful. Terms like microcytic and monochromatic are often used to describe the smaller RBCs observed in the test. These results can be used to determine if thal is present and the electrophoresis can confirm this. I will be quite surprised if she isn't a thal minor, like her father.

I got the CBC from February. The bloodwork in September only measured HGB and HCT. Here are the numbers:

Feb CBC (2.5 years old):

WBC: 7.4 k/cmm
RBC CNT: 3.73 m/cmm
HGB: 10.4 g/dl
HCT: 32.1 %
MCV: 86.0 fl
MCH: 27.8 pg
MCHC: 32.2 g/dl
RDW: 12.3 %
Platelets: 452 k/cmm
MPV: 7.2 fl
Lympth%: 45.5 %
Lymph #: 3.3 k/cmm
Mono%: 6.0 %
Mono#: 0.4 k/cmm
Gran%: 48.5 %
Gran#: 3.7 k/cmm

September (3 years old and after the period of iron supplements):

HGB: 11.1 g/dl
HCT: 33.3 %

That is all the information on the report. Nothing about cell size. Looking at this, I am questioning now if she does have a form of thalassemia since she is low in some areas, but doesn't seem to be as low as others on this site have written about.

Let me know what you think. Thank you so much, Andy, for your quick reply and thorough information. I really appreciate you time to help me with this.

The MCV and MCH do not support a beta thal minor diagnosis. They also do not support iron deficiency, and the RDW would be expected to be significantly higher in IDA. There is a small possibility that the results support a diagnosis of anemia of chronic disease, although the RDW would be expected to be higher in ACD. Were any of these numbers in the second test or was it just an Hb level test? The hemoglobin electrophoresis test would give a more definite answer if thal is involved. It's a simple blood test, and because the numbers are unusual, if thal can be ruled out by electrophoresis, it can help to narrow down the diagnosis.

The second test only had the two measurements. I thought it was strange too, but that is all that was in her medical reports.

I plan to request the hemoglobin electrophoresis test anyway during my meeting with the doctor. I don't feel comfortable continuing this high iron supplement until I know for certain that she does not have thal.

Thank you again for your help!